Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33440760G>ACA363692698SYNGAP1,SYNGAP1-AS1c.1450G>A (p.Ala484Thr)
c.1708G>A (p.Ala570Thr)
c.*105G>A (n.*105G>A)
c.1531G>A (p.Ala511Thr)
c.1663G>A (p.Ala555Thr)
n.330-3279C>T
6g.33440760G>CCA363692703SYNGAP1,SYNGAP1-AS1c.1450G>C (p.Ala484Pro)
c.1708G>C (p.Ala570Pro)
c.*105G>C (n.*105G>C)
c.1531G>C (p.Ala511Pro)
c.1663G>C (p.Ala555Pro)
n.330-3279C>G
6g.33440760G>TCA363692701SYNGAP1,SYNGAP1-AS1c.1450G>T (p.Ala484Ser)
c.1708G>T (p.Ala570Ser)
c.*105G>T (n.*105G>T)
c.1531G>T (p.Ala511Ser)
c.1663G>T (p.Ala555Ser)
n.330-3279C>A
6g.33440761C>ACA363692705SYNGAP1,SYNGAP1-AS1c.1451C>A (p.Ala484Asp)
c.1709C>A (p.Ala570Asp)
c.*106C>A (n.*106C>A)
c.1532C>A (p.Ala511Asp)
c.1664C>A (p.Ala555Asp)
n.330-3280G>T
6g.33440761C=CA1620013502SYNGAP1,SYNGAP1-AS1c.1451C= (p.Ala484=)
c.1709C= (p.Ala570=)
c.*106C= (n.*106C=)
c.1532C= (p.Ala511=)
c.1664C= (p.Ala555=)
n.330-3280G=
6g.33440761C>GCA363692707SYNGAP1,SYNGAP1-AS1c.1451C>G (p.Ala484Gly)
c.1709C>G (p.Ala570Gly)
c.*106C>G (n.*106C>G)
c.1532C>G (p.Ala511Gly)
c.1664C>G (p.Ala555Gly)
n.330-3280G>C
6g.33440761C>TCA363692709SYNGAP1,SYNGAP1-AS1c.1451C>T (p.Ala484Val)
c.1709C>T (p.Ala570Val)
c.*106C>T (n.*106C>T)
c.1532C>T (p.Ala511Val)
c.1664C>T (p.Ala555Val)
n.330-3280G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440762T>ACA450107836SYNGAP1,SYNGAP1-AS1c.1452T>A (p.Ala484=)
c.1710T>A (p.Ala570=)
c.*107T>A (n.*107T>A)
c.1533T>A (p.Ala511=)
c.1665T>A (p.Ala555=)
n.330-3281A>T
6g.33440762T>CCA450107839SYNGAP1,SYNGAP1-AS1c.1452T>C (p.Ala484=)
c.1710T>C (p.Ala570=)
c.*107T>C (n.*107T>C)
c.1533T>C (p.Ala511=)
c.1665T>C (p.Ala555=)
n.330-3281A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440762T>GCA450107841SYNGAP1,SYNGAP1-AS1c.1452T>G (p.Ala484=)
c.1710T>G (p.Ala570=)
c.*107T>G (n.*107T>G)
c.1533T>G (p.Ala511=)
c.1665T>G (p.Ala555=)
n.330-3281A>C
6g.33440762T=CA1620013503SYNGAP1,SYNGAP1-AS1c.1452T= (p.Ala484=)
c.1710T= (p.Ala570=)
c.*107T= (n.*107T=)
c.1533T= (p.Ala511=)
c.1665T= (p.Ala555=)
n.330-3281A=
6g.33440763T>ACA363692710SYNGAP1,SYNGAP1-AS1c.1453T>A (p.Ser485Thr)
c.1711T>A (p.Ser571Thr)
c.*108T>A (n.*108T>A)
c.1534T>A (p.Ser512Thr)
c.1666T>A (p.Ser556Thr)
n.330-3282A>T
6g.33440763T>CCA363692711SYNGAP1,SYNGAP1-AS1c.1453T>C (p.Ser485Pro)
c.1711T>C (p.Ser571Pro)
c.*108T>C (n.*108T>C)
c.1534T>C (p.Ser512Pro)
c.1666T>C (p.Ser556Pro)
n.330-3282A>G
6g.33440763T>GCA363692712SYNGAP1,SYNGAP1-AS1c.1453T>G (p.Ser485Ala)
c.1711T>G (p.Ser571Ala)
c.*108T>G (n.*108T>G)
c.1534T>G (p.Ser512Ala)
c.1666T>G (p.Ser556Ala)
n.330-3282A>C
6g.33440764C>ACA363692714SYNGAP1,SYNGAP1-AS1c.1454C>A (p.Ser485Ter)
c.1712C>A (p.Ser571Ter)
c.*109C>A (n.*109C>A)
c.1535C>A (p.Ser512Ter)
c.1667C>A (p.Ser556Ter)
n.330-3283G>T
 ClinVar dbSNP
6g.33440764C=CA1620013504SYNGAP1,SYNGAP1-AS1c.1454C= (p.Ser485=)
c.1712C= (p.Ser571=)
c.*109C= (n.*109C=)
c.1535C= (p.Ser512=)
c.1667C= (p.Ser556=)
n.330-3283G=
6g.33440764C>GCA363692716SYNGAP1,SYNGAP1-AS1c.1454C>G (p.Ser485Trp)
c.1712C>G (p.Ser571Trp)
c.*109C>G (n.*109C>G)
c.1535C>G (p.Ser512Trp)
c.1667C>G (p.Ser556Trp)
n.330-3283G>C
6g.33440764C>TCA363692725SYNGAP1,SYNGAP1-AS1c.1454C>T (p.Ser485Leu)
c.1712C>T (p.Ser571Leu)
c.*109C>T (n.*109C>T)
c.1535C>T (p.Ser512Leu)
c.1667C>T (p.Ser556Leu)
n.330-3283G>A
 gnomAD v4
6g.33440765G>ACA155631SYNGAP1,SYNGAP1-AS1c.1455G>A (p.Ser485=)
c.1713G>A (p.Ser571=)
c.*110G>A (n.*110G>A)
c.1536G>A (p.Ser512=)
c.1668G>A (p.Ser556=)
n.330-3284C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440765G>CCA450107848SYNGAP1,SYNGAP1-AS1c.1455G>C (p.Ser485=)
c.1713G>C (p.Ser571=)
c.*110G>C (n.*110G>C)
c.1536G>C (p.Ser512=)
c.1668G>C (p.Ser556=)
n.330-3284C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440765G=CA1620013505SYNGAP1,SYNGAP1-AS1c.1455G= (p.Ser485=)
c.1713G= (p.Ser571=)
c.*110G= (n.*110G=)
c.1536G= (p.Ser512=)
c.1668G= (p.Ser556=)
n.330-3284C=
6g.33440765G>TCA450107845SYNGAP1,SYNGAP1-AS1c.1455G>T (p.Ser485=)
c.1713G>T (p.Ser571=)
c.*110G>T (n.*110G>T)
c.1536G>T (p.Ser512=)
c.1668G>T (p.Ser556=)
n.330-3284C>A
6g.33440766T>ACA363692738SYNGAP1,SYNGAP1-AS1c.1456T>A (p.Trp486Arg)
c.1714T>A (p.Trp572Arg)
c.*111T>A (n.*111T>A)
c.1537T>A (p.Trp513Arg)
c.1669T>A (p.Trp557Arg)
n.330-3285A>T
6g.33440766T>CCA363692737SYNGAP1,SYNGAP1-AS1c.1456T>C (p.Trp486Arg)
c.1714T>C (p.Trp572Arg)
c.*111T>C (n.*111T>C)
c.1537T>C (p.Trp513Arg)
c.1669T>C (p.Trp557Arg)
n.330-3285A>G
6g.33440766T>GCA363692736SYNGAP1,SYNGAP1-AS1c.1456T>G (p.Trp486Gly)
c.1714T>G (p.Trp572Gly)
c.*111T>G (n.*111T>G)
c.1537T>G (p.Trp513Gly)
c.1669T>G (p.Trp557Gly)
n.330-3285A>C
 ClinVar
6g.33440767G>ACA363692739SYNGAP1,SYNGAP1-AS1c.1457G>A (p.Trp486Ter)
c.1715G>A (p.Trp572Ter)
c.*112G>A (n.*112G>A)
c.1538G>A (p.Trp513Ter)
c.1670G>A (p.Trp557Ter)
n.330-3286C>T
 dbSNP
6g.33440767G>CCA363692743SYNGAP1,SYNGAP1-AS1c.1457G>C (p.Trp486Ser)
c.1715G>C (p.Trp572Ser)
c.*112G>C (n.*112G>C)
c.1538G>C (p.Trp513Ser)
c.1670G>C (p.Trp557Ser)
n.330-3286C>G
 ClinVar dbSNP
6g.33440767G=CA1620013506SYNGAP1,SYNGAP1-AS1c.1457G= (p.Trp486=)
c.1715G= (p.Trp572=)
c.*112G= (n.*112G=)
c.1538G= (p.Trp513=)
c.1670G= (p.Trp557=)
n.330-3286C=
6g.33440767G>TCA363692741SYNGAP1,SYNGAP1-AS1c.1457G>T (p.Trp486Leu)
c.1715G>T (p.Trp572Leu)
c.*112G>T (n.*112G>T)
c.1538G>T (p.Trp513Leu)
c.1670G>T (p.Trp557Leu)
n.330-3286C>A
6g.33440768G>ACA16042674SYNGAP1,SYNGAP1-AS1c.1458G>A (p.Trp486Ter)
c.1716G>A (p.Trp572Ter)
c.*113G>A (n.*113G>A)
c.1539G>A (p.Trp513Ter)
c.1671G>A (p.Trp557Ter)
n.330-3287C>T
 ClinVar dbSNP
6g.33440768G>CCA363692750SYNGAP1,SYNGAP1-AS1c.1458G>C (p.Trp486Cys)
c.1716G>C (p.Trp572Cys)
c.*113G>C (n.*113G>C)
c.1539G>C (p.Trp513Cys)
c.1671G>C (p.Trp557Cys)
n.330-3287C>G
6g.33440768G=CA1620013507SYNGAP1,SYNGAP1-AS1c.1458G= (p.Trp486=)
c.1716G= (p.Trp572=)
c.*113G= (n.*113G=)
c.1539G= (p.Trp513=)
c.1671G= (p.Trp557=)
n.330-3287C=
6g.33440768G>TCA363692747SYNGAP1,SYNGAP1-AS1c.1458G>T (p.Trp486Cys)
c.1716G>T (p.Trp572Cys)
c.*113G>T (n.*113G>T)
c.1539G>T (p.Trp513Cys)
c.1671G>T (p.Trp557Cys)
n.330-3287C>A
6g.33440769C>ACA450107860SYNGAP1,SYNGAP1-AS1c.1459C>A (p.Arg487=)
c.1717C>A (p.Arg573=)
c.*114C>A (n.*114C>A)
c.1540C>A (p.Arg514=)
c.1672C>A (p.Arg558=)
n.330-3288G>T
 ClinVar gnomAD v4
6g.33440769C=CA1620013508SYNGAP1,SYNGAP1-AS1c.1459C= (p.Arg487=)
c.1717C= (p.Arg573=)
c.*114C= (n.*114C=)
c.1540C= (p.Arg514=)
c.1672C= (p.Arg558=)
n.330-3288G=
6g.33440769C>GCA363692753SYNGAP1,SYNGAP1-AS1c.1459C>G (p.Arg487Gly)
c.1717C>G (p.Arg573Gly)
c.*114C>G (n.*114C>G)
c.1540C>G (p.Arg514Gly)
c.1672C>G (p.Arg558Gly)
n.330-3288G>C
6g.33440769C>TCA16618280SYNGAP1,SYNGAP1-AS1c.1459C>T (p.Arg487Trp)
c.1717C>T (p.Arg573Trp)
c.*114C>T (n.*114C>T)
c.1540C>T (p.Arg514Trp)
c.1672C>T (p.Arg558Trp)
n.330-3288G>A
 ClinVar dbSNP COSMIC COSMIC
6g.33440770G>ACA363692758SYNGAP1,SYNGAP1-AS1c.1460G>A (p.Arg487Gln)
c.1718G>A (p.Arg573Gln)
c.*115G>A (n.*115G>A)
c.1541G>A (p.Arg514Gln)
c.1673G>A (p.Arg558Gln)
n.330-3289C>T
 ClinVar dbSNP
6g.33440770G>CCA363692762SYNGAP1,SYNGAP1-AS1c.1460G>C (p.Arg487Pro)
c.1718G>C (p.Arg573Pro)
c.*115G>C (n.*115G>C)
c.1541G>C (p.Arg514Pro)
c.1673G>C (p.Arg558Pro)
n.330-3289C>G
6g.33440770G=CA1620013509SYNGAP1,SYNGAP1-AS1c.1460G= (p.Arg487=)
c.1718G= (p.Arg573=)
c.*115G= (n.*115G=)
c.1541G= (p.Arg514=)
c.1673G= (p.Arg558=)
n.330-3289C=
6g.33440770G>TCA363692764SYNGAP1,SYNGAP1-AS1c.1460G>T (p.Arg487Leu)
c.1718G>T (p.Arg573Leu)
c.*115G>T (n.*115G>T)
c.1541G>T (p.Arg514Leu)
c.1673G>T (p.Arg558Leu)
n.330-3289C>A
 ClinVar dbSNP
6g.33440771G>ACA450107863SYNGAP1,SYNGAP1-AS1c.1461G>A (p.Arg487=)
c.1719G>A (p.Arg573=)
c.*116G>A (n.*116G>A)
c.1542G>A (p.Arg514=)
c.1674G>A (p.Arg558=)
n.330-3290C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33440771G>CCA137098892SYNGAP1,SYNGAP1-AS1c.1461G>C (p.Arg487=)
c.1719G>C (p.Arg573=)
c.*116G>C (n.*116G>C)
c.1542G>C (p.Arg514=)
c.1674G>C (p.Arg558=)
n.330-3290C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440771G=CA1620013510SYNGAP1,SYNGAP1-AS1c.1461G= (p.Arg487=)
c.1719G= (p.Arg573=)
c.*116G= (n.*116G=)
c.1542G= (p.Arg514=)
c.1674G= (p.Arg558=)
n.330-3290C=
6g.33440771G>TCA450107864SYNGAP1,SYNGAP1-AS1c.1461G>T (p.Arg487=)
c.1719G>T (p.Arg573=)
c.*116G>T (n.*116G>T)
c.1542G>T (p.Arg514=)
c.1674G>T (p.Arg558=)
n.330-3290C>A
6g.33440778_33440782dupCA2695202895SYNGAP1,SYNGAP1-AS1c.1468_1472dup (p.Glu492AlafsTer?)
c.1726_1730dup (p.Glu578AlafsTer?)
c.*123_*127dup (n.*123_*127dup)
c.1549_1553dup (p.Glu519AlafsTer?)
c.1681_1685dup (p.Glu563AlafsTer?)
n.330-3294_330-3290dup
6g.33440772C>ACA363692767SYNGAP1,SYNGAP1-AS1c.1462C>A (p.Leu488Met)
c.1720C>A (p.Leu574Met)
c.*117C>A (n.*117C>A)
c.1543C>A (p.Leu515Met)
c.1675C>A (p.Leu559Met)
n.330-3291G>T
6g.33440772C>GCA363692769SYNGAP1,SYNGAP1-AS1c.1462C>G (p.Leu488Val)
c.1720C>G (p.Leu574Val)
c.*117C>G (n.*117C>G)
c.1543C>G (p.Leu515Val)
c.1675C>G (p.Leu559Val)
n.330-3291G>C
 dbSNP
6g.33440772C>TCA450107868SYNGAP1,SYNGAP1-AS1c.1462C>T (p.Leu488=)
c.1720C>T (p.Leu574=)
c.*117C>T (n.*117C>T)
c.1543C>T (p.Leu515=)
c.1675C>T (p.Leu559=)
n.330-3291G>A
6g.33440772_33440773delinsCTCA1620013511SYNGAP1,SYNGAP1-AS1c.1462_1463delinsCT (p.Leu488=)
c.1720_1721delinsCT (p.Leu574=)
c.*117_*118delinsCT (n.*117_*118delinsCT)
c.1543_1544delinsCT (p.Leu515=)
c.1675_1676delinsCT (p.Leu559=)
n.330-3292_330-3291delinsAG
6g.33440773delCA915944216SYNGAP1,SYNGAP1-AS1c.1463del (p.Leu488ArgfsTer?)
c.1721del (p.Leu574ArgfsTer?)
c.*118del (n.*118del)
c.1544del (p.Leu515ArgfsTer?)
c.1676del (p.Leu559ArgfsTer?)
n.330-3292del
 ClinVar dbSNP
6g.33440773T>ACA363692775SYNGAP1,SYNGAP1-AS1c.1463T>A (p.Leu488Gln)
c.1721T>A (p.Leu574Gln)
c.*118T>A (n.*118T>A)
c.1544T>A (p.Leu515Gln)
c.1676T>A (p.Leu559Gln)
n.330-3292A>T
6g.33440773T>CCA363692777SYNGAP1,SYNGAP1-AS1c.1463T>C (p.Leu488Pro)
c.1721T>C (p.Leu574Pro)
c.*118T>C (n.*118T>C)
c.1544T>C (p.Leu515Pro)
c.1676T>C (p.Leu559Pro)
n.330-3292A>G
 gnomAD v4
6g.33440773T>GCA363692782SYNGAP1,SYNGAP1-AS1c.1463T>G (p.Leu488Arg)
c.1721T>G (p.Leu574Arg)
c.*118T>G (n.*118T>G)
c.1544T>G (p.Leu515Arg)
c.1676T>G (p.Leu559Arg)
n.330-3292A>C
6g.33440774G>ACA450107869SYNGAP1,SYNGAP1-AS1c.1464G>A (p.Leu488=)
c.1722G>A (p.Leu574=)
c.*119G>A (n.*119G>A)
c.1545G>A (p.Leu515=)
c.1677G>A (p.Leu559=)
n.330-3293C>T
6g.33440774G>CCA450107870SYNGAP1,SYNGAP1-AS1c.1464G>C (p.Leu488=)
c.1722G>C (p.Leu574=)
c.*119G>C (n.*119G>C)
c.1545G>C (p.Leu515=)
c.1677G>C (p.Leu559=)
n.330-3293C>G
6g.33440774G>TCA450107871SYNGAP1,SYNGAP1-AS1c.1464G>T (p.Leu488=)
c.1722G>T (p.Leu574=)
c.*119G>T (n.*119G>T)
c.1545G>T (p.Leu515=)
c.1677G>T (p.Leu559=)
n.330-3293C>A
 gnomAD v4
6g.33440775C>ACA363692787SYNGAP1,SYNGAP1-AS1c.1465C>A (p.Arg489Ser)
c.1723C>A (p.Arg575Ser)
c.*120C>A (n.*120C>A)
c.1546C>A (p.Arg516Ser)
c.1678C>A (p.Arg560Ser)
n.330-3294G>T
6g.33440775C=CA1620013512SYNGAP1,SYNGAP1-AS1c.1465C= (p.Arg489=)
c.1723C= (p.Arg575=)
c.*120C= (n.*120C=)
c.1546C= (p.Arg516=)
c.1678C= (p.Arg560=)
n.330-3294G=
6g.33440775C>GCA363692789SYNGAP1,SYNGAP1-AS1c.1465C>G (p.Arg489Gly)
c.1723C>G (p.Arg575Gly)
c.*120C>G (n.*120C>G)
c.1546C>G (p.Arg516Gly)
c.1678C>G (p.Arg560Gly)
n.330-3294G>C
6g.33440775C>TCA3758701SYNGAP1,SYNGAP1-AS1c.1465C>T (p.Arg489Cys)
c.1723C>T (p.Arg575Cys)
c.*120C>T (n.*120C>T)
c.1546C>T (p.Arg516Cys)
c.1678C>T (p.Arg560Cys)
n.330-3294G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440776G>ACA137098895SYNGAP1,SYNGAP1-AS1c.1466G>A (p.Arg489His)
c.1724G>A (p.Arg575His)
c.*121G>A (n.*121G>A)
c.1547G>A (p.Arg516His)
c.1679G>A (p.Arg560His)
n.330-3295C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440776G>CCA363692798SYNGAP1,SYNGAP1-AS1c.1466G>C (p.Arg489Pro)
c.1724G>C (p.Arg575Pro)
c.*121G>C (n.*121G>C)
c.1547G>C (p.Arg516Pro)
c.1679G>C (p.Arg560Pro)
n.330-3295C>G
6g.33440776G=CA1620013513SYNGAP1,SYNGAP1-AS1c.1466G= (p.Arg489=)
c.1724G= (p.Arg575=)
c.*121G= (n.*121G=)
c.1547G= (p.Arg516=)
c.1679G= (p.Arg560=)
n.330-3295C=
6g.33440776G>TCA363692796SYNGAP1,SYNGAP1-AS1c.1466G>T (p.Arg489Leu)
c.1724G>T (p.Arg575Leu)
c.*121G>T (n.*121G>T)
c.1547G>T (p.Arg516Leu)
c.1679G>T (p.Arg560Leu)
n.330-3295C>A
6g.33440777C>ACA450107884SYNGAP1,SYNGAP1-AS1c.1467C>A (p.Arg489=)
c.1725C>A (p.Arg575=)
c.*122C>A (n.*122C>A)
c.1548C>A (p.Arg516=)
c.1680C>A (p.Arg560=)
n.330-3296G>T
 dbSNP gnomAD v2
6g.33440777C=CA1620013514SYNGAP1,SYNGAP1-AS1c.1467C= (p.Arg489=)
c.1725C= (p.Arg575=)
c.*122C= (n.*122C=)
c.1548C= (p.Arg516=)
c.1680C= (p.Arg560=)
n.330-3296G=
6g.33440777C>GCA450107887SYNGAP1,SYNGAP1-AS1c.1467C>G (p.Arg489=)
c.1725C>G (p.Arg575=)
c.*122C>G (n.*122C>G)
c.1548C>G (p.Arg516=)
c.1680C>G (p.Arg560=)
n.330-3296G>C
 gnomAD v4
6g.33440777C>TCA450107890SYNGAP1,SYNGAP1-AS1c.1467C>T (p.Arg489=)
c.1725C>T (p.Arg575=)
c.*122C>T (n.*122C>T)
c.1548C>T (p.Arg516=)
c.1680C>T (p.Arg560=)
n.330-3296G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33440778T>ACA363692803SYNGAP1,SYNGAP1-AS1c.1468T>A (p.Cys490Ser)
c.1726T>A (p.Cys576Ser)
c.*123T>A (n.*123T>A)
c.1549T>A (p.Cys517Ser)
c.1681T>A (p.Cys561Ser)
n.330-3297A>T
6g.33440778T>CCA363692805SYNGAP1,SYNGAP1-AS1c.1468T>C (p.Cys490Arg)
c.1726T>C (p.Cys576Arg)
c.*123T>C (n.*123T>C)
c.1549T>C (p.Cys517Arg)
c.1681T>C (p.Cys561Arg)
n.330-3297A>G
 ClinVar
6g.33440778T>GCA363692807SYNGAP1,SYNGAP1-AS1c.1468T>G (p.Cys490Gly)
c.1726T>G (p.Cys576Gly)
c.*123T>G (n.*123T>G)
c.1549T>G (p.Cys517Gly)
c.1681T>G (p.Cys561Gly)
n.330-3297A>C
6g.33440779G>ACA363692811SYNGAP1,SYNGAP1-AS1c.1469G>A (p.Cys490Tyr)
c.1727G>A (p.Cys576Tyr)
c.*124G>A (n.*124G>A)
c.1550G>A (p.Cys517Tyr)
c.1682G>A (p.Cys561Tyr)
n.330-3298C>T
6g.33440779G>CCA363692815SYNGAP1,SYNGAP1-AS1c.1469G>C (p.Cys490Ser)
c.1727G>C (p.Cys576Ser)
c.*124G>C (n.*124G>C)
c.1550G>C (p.Cys517Ser)
c.1682G>C (p.Cys561Ser)
n.330-3298C>G
6g.33440779G>TCA363692818SYNGAP1,SYNGAP1-AS1c.1469G>T (p.Cys490Phe)
c.1727G>T (p.Cys576Phe)
c.*124G>T (n.*124G>T)
c.1550G>T (p.Cys517Phe)
c.1682G>T (p.Cys561Phe)
n.330-3298C>A
6g.33440780C>ACA363692822SYNGAP1,SYNGAP1-AS1c.1470C>A (p.Cys490Ter)
c.1728C>A (p.Cys576Ter)
c.*125C>A (n.*125C>A)
c.1551C>A (p.Cys517Ter)
c.1683C>A (p.Cys561Ter)
n.330-3299G>T
 ClinVar dbSNP
6g.33440780C=CA1620013515SYNGAP1,SYNGAP1-AS1c.1470C= (p.Cys490=)
c.1728C= (p.Cys576=)
c.*125C= (n.*125C=)
c.1551C= (p.Cys517=)
c.1683C= (p.Cys561=)
n.330-3299G=
6g.33440780C>GCA363692824SYNGAP1,SYNGAP1-AS1c.1470C>G (p.Cys490Trp)
c.1728C>G (p.Cys576Trp)
c.*125C>G (n.*125C>G)
c.1551C>G (p.Cys517Trp)
c.1683C>G (p.Cys561Trp)
n.330-3299G>C
6g.33440780C>TCA3758702SYNGAP1,SYNGAP1-AS1c.1470C>T (p.Cys490=)
c.1728C>T (p.Cys576=)
c.*125C>T (n.*125C>T)
c.1551C>T (p.Cys517=)
c.1683C>T (p.Cys561=)
n.330-3299G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440781G>ACA3758703SYNGAP1,SYNGAP1-AS1c.1471G>A (p.Ala491Thr)
c.1729G>A (p.Ala577Thr)
c.*126G>A (n.*126G>A)
c.1552G>A (p.Ala518Thr)
c.1684G>A (p.Ala562Thr)
n.330-3300C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440781G>CCA363692845SYNGAP1,SYNGAP1-AS1c.1471G>C (p.Ala491Pro)
c.1729G>C (p.Ala577Pro)
c.*126G>C (n.*126G>C)
c.1552G>C (p.Ala518Pro)
c.1684G>C (p.Ala562Pro)
n.330-3300C>G
6g.33440781G=CA1620013516SYNGAP1,SYNGAP1-AS1c.1471G= (p.Ala491=)
c.1729G= (p.Ala577=)
c.*126G= (n.*126G=)
c.1552G= (p.Ala518=)
c.1684G= (p.Ala562=)
n.330-3300C=
6g.33440781G>TCA363692842SYNGAP1,SYNGAP1-AS1c.1471G>T (p.Ala491Ser)
c.1729G>T (p.Ala577Ser)
c.*126G>T (n.*126G>T)
c.1552G>T (p.Ala518Ser)
c.1684G>T (p.Ala562Ser)
n.330-3300C>A
 dbSNP gnomAD v2
6g.33440782C>ACA363692852SYNGAP1,SYNGAP1-AS1c.1472C>A (p.Ala491Glu)
c.1730C>A (p.Ala577Glu)
c.*127C>A (n.*127C>A)
c.1553C>A (p.Ala518Glu)
c.1685C>A (p.Ala562Glu)
n.330-3301G>T
6g.33440782C=CA1620013517SYNGAP1,SYNGAP1-AS1c.1472C= (p.Ala491=)
c.1730C= (p.Ala577=)
c.*127C= (n.*127C=)
c.1553C= (p.Ala518=)
c.1685C= (p.Ala562=)
n.330-3301G=
6g.33440782C>GCA363692855SYNGAP1,SYNGAP1-AS1c.1472C>G (p.Ala491Gly)
c.1730C>G (p.Ala577Gly)
c.*127C>G (n.*127C>G)
c.1553C>G (p.Ala518Gly)
c.1685C>G (p.Ala562Gly)
n.330-3301G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33440782C>TCA363692859SYNGAP1,SYNGAP1-AS1c.1472C>T (p.Ala491Val)
c.1730C>T (p.Ala577Val)
c.*127C>T (n.*127C>T)
c.1553C>T (p.Ala518Val)
c.1685C>T (p.Ala562Val)
n.330-3301G>A
 gnomAD v4
6g.33440783A>CCA450107923SYNGAP1,SYNGAP1-AS1c.1473A>C (p.Ala491=)
c.1731A>C (p.Ala577=)
c.*128A>C (n.*128A>C)
c.1554A>C (p.Ala518=)
c.1686A>C (p.Ala562=)
n.330-3302T>G
6g.33440783A>GCA450107926SYNGAP1,SYNGAP1-AS1c.1473A>G (p.Ala491=)
c.1731A>G (p.Ala577=)
c.*128A>G (n.*128A>G)
c.1554A>G (p.Ala518=)
c.1686A>G (p.Ala562=)
n.330-3302T>C
 gnomAD v4
6g.33440783A>TCA450107930SYNGAP1,SYNGAP1-AS1c.1473A>T (p.Ala491=)
c.1731A>T (p.Ala577=)
c.*128A>T (n.*128A>T)
c.1554A>T (p.Ala518=)
c.1686A>T (p.Ala562=)
n.330-3302T>A
6g.33440784G>ACA363692862SYNGAP1,SYNGAP1-AS1c.1474G>A (p.Glu492Lys)
c.1732G>A (p.Glu578Lys)
c.*129G>A (n.*129G>A)
c.1555G>A (p.Glu519Lys)
c.1687G>A (p.Glu563Lys)
n.330-3303C>T
6g.33440784G>CCA363692864SYNGAP1,SYNGAP1-AS1c.1474G>C (p.Glu492Gln)
c.1732G>C (p.Glu578Gln)
c.*129G>C (n.*129G>C)
c.1555G>C (p.Glu519Gln)
c.1687G>C (p.Glu563Gln)
n.330-3303C>G
6g.33440784G=CA1620013518SYNGAP1,SYNGAP1-AS1c.1474G= (p.Glu492=)
c.1732G= (p.Glu578=)
c.*129G= (n.*129G=)
c.1555G= (p.Glu519=)
c.1687G= (p.Glu563=)
n.330-3303C=
6g.33440784G>TCA363692868SYNGAP1,SYNGAP1-AS1c.1474G>T (p.Glu492Ter)
c.1732G>T (p.Glu578Ter)
c.*129G>T (n.*129G>T)
c.1555G>T (p.Glu519Ter)
c.1687G>T (p.Glu563Ter)
n.330-3303C>A
 dbSNP
6g.33440787_33440790delCA2695202896SYNGAP1,SYNGAP1-AS1c.1477_1480del (p.Arg493AlafsTer?)
c.1735_1738del (p.Arg579AlafsTer?)
c.*132_*135del (n.*132_*135del)
c.1558_1561del (p.Arg520AlafsTer?)
c.1690_1693del (p.Arg564AlafsTer?)
n.330-3306_330-3303del
6g.33440785A>CCA363692870SYNGAP1,SYNGAP1-AS1c.1475A>C (p.Glu492Ala)
c.1733A>C (p.Glu578Ala)
c.*130A>C (n.*130A>C)
c.1556A>C (p.Glu519Ala)
c.1688A>C (p.Glu563Ala)
n.330-3304T>G
6g.33440785A>GCA363692875SYNGAP1,SYNGAP1-AS1c.1475A>G (p.Glu492Gly)
c.1733A>G (p.Glu578Gly)
c.*130A>G (n.*130A>G)
c.1556A>G (p.Glu519Gly)
c.1688A>G (p.Glu563Gly)
n.330-3304T>C
 dbSNP
6g.33440785A>TCA363692878SYNGAP1,SYNGAP1-AS1c.1475A>T (p.Glu492Val)
c.1733A>T (p.Glu578Val)
c.*130A>T (n.*130A>T)
c.1556A>T (p.Glu519Val)
c.1688A>T (p.Glu563Val)
n.330-3304T>A
6g.33440786G>ACA450107949SYNGAP1,SYNGAP1-AS1c.1476G>A (p.Glu492=)
c.1734G>A (p.Glu578=)
c.*131G>A (n.*131G>A)
c.1557G>A (p.Glu519=)
c.1689G>A (p.Glu563=)
n.330-3305C>T
 gnomAD v4
6g.33440786G>CCA363692880SYNGAP1,SYNGAP1-AS1c.1476G>C (p.Glu492Asp)
c.1734G>C (p.Glu578Asp)
c.*131G>C (n.*131G>C)
c.1557G>C (p.Glu519Asp)
c.1689G>C (p.Glu563Asp)
n.330-3305C>G
6g.33440786G>TCA363692884SYNGAP1,SYNGAP1-AS1c.1476G>T (p.Glu492Asp)
c.1734G>T (p.Glu578Asp)
c.*131G>T (n.*131G>T)
c.1557G>T (p.Glu519Asp)
c.1689G>T (p.Glu563Asp)
n.330-3305C>A
6g.33440788_33440792delCA913189979SYNGAP1,SYNGAP1-AS1c.1478_1482del (p.Arg493ProfsTer?)
c.1736_1740del (p.Arg579ProfsTer?)
c.*133_*137del (n.*133_*137del)
c.1559_1563del (p.Arg520ProfsTer?)
c.1691_1695del (p.Arg564ProfsTer?)
n.330-3309_330-3305del
 ClinVar
6g.33440787C>ACA450107951SYNGAP1,SYNGAP1-AS1c.1477C>A (p.Arg493=)
c.1735C>A (p.Arg579=)
c.*132C>A (n.*132C>A)
c.1558C>A (p.Arg520=)
c.1690C>A (p.Arg564=)
n.330-3306G>T
6g.33440787C=CA1620013519SYNGAP1,SYNGAP1-AS1c.1477C= (p.Arg493=)
c.1735C= (p.Arg579=)
c.*132C= (n.*132C=)
c.1558C= (p.Arg520=)
c.1690C= (p.Arg564=)
n.330-3306G=
6g.33440787C>GCA363692889SYNGAP1,SYNGAP1-AS1c.1477C>G (p.Arg493Gly)
c.1735C>G (p.Arg579Gly)
c.*132C>G (n.*132C>G)
c.1558C>G (p.Arg520Gly)
c.1690C>G (p.Arg564Gly)
n.330-3306G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33440787C>TCA118188SYNGAP1,SYNGAP1-AS1c.1477C>T (p.Arg493Ter)
c.1735C>T (p.Arg579Ter)
c.*132C>T (n.*132C>T)
c.1558C>T (p.Arg520Ter)
c.1690C>T (p.Arg564Ter)
n.330-3306G>A
 ClinVar dbSNP
6g.33440788G>ACA363692904SYNGAP1,SYNGAP1-AS1c.1478G>A (p.Arg493Gln)
c.1736G>A (p.Arg579Gln)
c.*133G>A (n.*133G>A)
c.1559G>A (p.Arg520Gln)
c.1691G>A (p.Arg564Gln)
n.330-3307C>T
 gnomAD v4
6g.33440788G>CCA363692896SYNGAP1,SYNGAP1-AS1c.1478G>C (p.Arg493Pro)
c.1736G>C (p.Arg579Pro)
c.*133G>C (n.*133G>C)
c.1559G>C (p.Arg520Pro)
c.1691G>C (p.Arg564Pro)
n.330-3307C>G
6g.33440788G>TCA363692900SYNGAP1,SYNGAP1-AS1c.1478G>T (p.Arg493Leu)
c.1736G>T (p.Arg579Leu)
c.*133G>T (n.*133G>T)
c.1559G>T (p.Arg520Leu)
c.1691G>T (p.Arg564Leu)
n.330-3307C>A
6g.33440789A>CCA450107967SYNGAP1,SYNGAP1-AS1c.1479A>C (p.Arg493=)
c.1737A>C (p.Arg579=)
c.*134A>C (n.*134A>C)
c.1560A>C (p.Arg520=)
c.1692A>C (p.Arg564=)
n.330-3308T>G
6g.33440789A>GCA450107965SYNGAP1,SYNGAP1-AS1c.1479A>G (p.Arg493=)
c.1737A>G (p.Arg579=)
c.*134A>G (n.*134A>G)
c.1560A>G (p.Arg520=)
c.1692A>G (p.Arg564=)
n.330-3308T>C
6g.33440789A>TCA450107963SYNGAP1,SYNGAP1-AS1c.1479A>T (p.Arg493=)
c.1737A>T (p.Arg579=)
c.*134A>T (n.*134A>T)
c.1560A>T (p.Arg520=)
c.1692A>T (p.Arg564=)
n.330-3308T>A
6g.33440790G>ACA363692909SYNGAP1,SYNGAP1-AS1c.1480G>A (p.Gly494Ser)
c.1738G>A (p.Gly580Ser)
c.*135G>A (n.*135G>A)
c.1561G>A (p.Gly521Ser)
c.1693G>A (p.Gly565Ser)
n.330-3309C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33440790G>CCA363692912SYNGAP1,SYNGAP1-AS1c.1480G>C (p.Gly494Arg)
c.1738G>C (p.Gly580Arg)
c.*135G>C (n.*135G>C)
c.1561G>C (p.Gly521Arg)
c.1693G>C (p.Gly565Arg)
n.330-3309C>G
6g.33440790G=CA1620013520SYNGAP1,SYNGAP1-AS1c.1480G= (p.Gly494=)
c.1738G= (p.Gly580=)
c.*135G= (n.*135G=)
c.1561G= (p.Gly521=)
c.1693G= (p.Gly565=)
n.330-3309C=
6g.33440790G>TCA363692915SYNGAP1,SYNGAP1-AS1c.1480G>T (p.Gly494Cys)
c.1738G>T (p.Gly580Cys)
c.*135G>T (n.*135G>T)
c.1561G>T (p.Gly521Cys)
c.1693G>T (p.Gly565Cys)
n.330-3309C>A
6g.33440791G>ACA363692923SYNGAP1,SYNGAP1-AS1c.1481G>A (p.Gly494Asp)
c.1739G>A (p.Gly580Asp)
c.*136G>A (n.*136G>A)
c.1562G>A (p.Gly521Asp)
c.1694G>A (p.Gly565Asp)
n.330-3310C>T
6g.33440791G>CCA363692925SYNGAP1,SYNGAP1-AS1c.1481G>C (p.Gly494Ala)
c.1739G>C (p.Gly580Ala)
c.*136G>C (n.*136G>C)
c.1562G>C (p.Gly521Ala)
c.1694G>C (p.Gly565Ala)
n.330-3310C>G
6g.33440791G>TCA363692929SYNGAP1,SYNGAP1-AS1c.1481G>T (p.Gly494Val)
c.1739G>T (p.Gly580Val)
c.*136G>T (n.*136G>T)
c.1562G>T (p.Gly521Val)
c.1694G>T (p.Gly565Val)
n.330-3310C>A
6g.33440792C>ACA450107978SYNGAP1,SYNGAP1-AS1c.1482C>A (p.Gly494=)
c.1740C>A (p.Gly580=)
c.*137C>A (n.*137C>A)
c.1563C>A (p.Gly521=)
c.1695C>A (p.Gly565=)
n.330-3311G>T
6g.33440792C>GCA450107983SYNGAP1,SYNGAP1-AS1c.1482C>G (p.Gly494=)
c.1740C>G (p.Gly580=)
c.*137C>G (n.*137C>G)
c.1563C>G (p.Gly521=)
c.1695C>G (p.Gly565=)
n.330-3311G>C
 gnomAD v4
6g.33440792C>TCA450107980SYNGAP1,SYNGAP1-AS1c.1482C>T (p.Gly494=)
c.1740C>T (p.Gly580=)
c.*137C>T (n.*137C>T)
c.1563C>T (p.Gly521=)
c.1695C>T (p.Gly565=)
n.330-3311G>A
6g.33440793C>ACA450107986SYNGAP1,SYNGAP1-AS1c.1483C>A (p.Arg495=)
c.1741C>A (p.Arg581=)
c.*138C>A (n.*138C>A)
c.1564C>A (p.Arg522=)
c.1696C>A (p.Arg566=)
n.330-3312G>T
6g.33440793C>GCA363692933SYNGAP1,SYNGAP1-AS1c.1483C>G (p.Arg495Gly)
c.1741C>G (p.Arg581Gly)
c.*138C>G (n.*138C>G)
c.1564C>G (p.Arg522Gly)
c.1696C>G (p.Arg566Gly)
n.330-3312G>C
6g.33440793C>TCA363692936SYNGAP1,SYNGAP1-AS1c.1483C>T (p.Arg495Trp)
c.1741C>T (p.Arg581Trp)
c.*138C>T (n.*138C>T)
c.1564C>T (p.Arg522Trp)
c.1696C>T (p.Arg566Trp)
n.330-3312G>A
 ClinVar dbSNP COSMIC COSMIC
6g.33440793_33440794delinsCGCA1620013521SYNGAP1,SYNGAP1-AS1c.1483_1484delinsCG (p.Arg495=)
c.1741_1742delinsCG (p.Arg581=)
c.*138_*139delinsCG (n.*138_*139delinsCG)
c.1564_1565delinsCG (p.Arg522=)
c.1696_1697delinsCG (p.Arg566=)
n.330-3313_330-3312delinsCG
6g.33440794G>ACA363692941SYNGAP1,SYNGAP1-AS1c.1484G>A (p.Arg495Gln)
c.1742G>A (p.Arg581Gln)
c.*139G>A (n.*139G>A)
c.1565G>A (p.Arg522Gln)
c.1697G>A (p.Arg566Gln)
n.330-3313C>T
 ClinVar dbSNP gnomAD v4
6g.33440794G>CCA363692945SYNGAP1,SYNGAP1-AS1c.1484G>C (p.Arg495Pro)
c.1742G>C (p.Arg581Pro)
c.*139G>C (n.*139G>C)
c.1565G>C (p.Arg522Pro)
c.1697G>C (p.Arg566Pro)
n.330-3313C>G
 gnomAD v4
6g.33440794G=CA1620013522SYNGAP1,SYNGAP1-AS1c.1484G= (p.Arg495=)
c.1742G= (p.Arg581=)
c.*139G= (n.*139G=)
c.1565G= (p.Arg522=)
c.1697G= (p.Arg566=)
n.330-3313C=
6g.33440794G>TCA363692949SYNGAP1,SYNGAP1-AS1c.1484G>T (p.Arg495Leu)
c.1742G>T (p.Arg581Leu)
c.*139G>T (n.*139G>T)
c.1565G>T (p.Arg522Leu)
c.1697G>T (p.Arg566Leu)
n.330-3313C>A
 gnomAD v4
6g.33440796delCA1139659319SYNGAP1,SYNGAP1-AS1c.1486del (p.Glu496ArgfsTer?)
c.1744del (p.Glu582ArgfsTer?)
c.*141del (n.*141del)
c.1567del (p.Glu523ArgfsTer?)
c.1699del (p.Glu567ArgfsTer?)
n.330-3313del
 ClinVar dbSNP
6g.33440795G>ACA450107999SYNGAP1,SYNGAP1-AS1c.1485G>A (p.Arg495=)
c.1743G>A (p.Arg581=)
c.*140G>A (n.*140G>A)
c.1566G>A (p.Arg522=)
c.1698G>A (p.Arg566=)
n.330-3314C>T
 ClinVar gnomAD v4
6g.33440795G>CCA450108002SYNGAP1,SYNGAP1-AS1c.1485G>C (p.Arg495=)
c.1743G>C (p.Arg581=)
c.*140G>C (n.*140G>C)
c.1566G>C (p.Arg522=)
c.1698G>C (p.Arg566=)
n.330-3314C>G
6g.33440795G>TCA450108005SYNGAP1,SYNGAP1-AS1c.1485G>T (p.Arg495=)
c.1743G>T (p.Arg581=)
c.*140G>T (n.*140G>T)
c.1566G>T (p.Arg522=)
c.1698G>T (p.Arg566=)
n.330-3314C>A
6g.33440796G>ACA363692962SYNGAP1,SYNGAP1-AS1c.1486G>A (p.Glu496Lys)
c.1744G>A (p.Glu582Lys)
c.*141G>A (n.*141G>A)
c.1567G>A (p.Glu523Lys)
c.1699G>A (p.Glu567Lys)
n.330-3315C>T
6g.33440796G>CCA363692959SYNGAP1,SYNGAP1-AS1c.1486G>C (p.Glu496Gln)
c.1744G>C (p.Glu582Gln)
c.*141G>C (n.*141G>C)
c.1567G>C (p.Glu523Gln)
c.1699G>C (p.Glu567Gln)
n.330-3315C>G
6g.33440796G=CA1620013523SYNGAP1,SYNGAP1-AS1c.1486G= (p.Glu496=)
c.1744G= (p.Glu582=)
c.*141G= (n.*141G=)
c.1567G= (p.Glu523=)
c.1699G= (p.Glu567=)
n.330-3315C=
6g.33440796G>TCA363692955SYNGAP1,SYNGAP1-AS1c.1486G>T (p.Glu496Ter)
c.1744G>T (p.Glu582Ter)
c.*141G>T (n.*141G>T)
c.1567G>T (p.Glu523Ter)
c.1699G>T (p.Glu567Ter)
n.330-3315C>A
 dbSNP
6g.33440797A>CCA363692967SYNGAP1,SYNGAP1-AS1c.1487A>C (p.Glu496Ala)
c.1745A>C (p.Glu582Ala)
c.*142A>C (n.*142A>C)
c.1568A>C (p.Glu523Ala)
c.1700A>C (p.Glu567Ala)
n.330-3316T>G
6g.33440797A>GCA363692973SYNGAP1,SYNGAP1-AS1c.1487A>G (p.Glu496Gly)
c.1745A>G (p.Glu582Gly)
c.*142A>G (n.*142A>G)
c.1568A>G (p.Glu523Gly)
c.1700A>G (p.Glu567Gly)
n.330-3316T>C
6g.33440797A>TCA363692971SYNGAP1,SYNGAP1-AS1c.1487A>T (p.Glu496Val)
c.1745A>T (p.Glu582Val)
c.*142A>T (n.*142A>T)
c.1568A>T (p.Glu523Val)
c.1700A>T (p.Glu567Val)
n.330-3316T>A
6g.33440798G>ACA450108020SYNGAP1,SYNGAP1-AS1c.1488G>A (p.Glu496=)
c.1746G>A (p.Glu582=)
c.*143G>A (n.*143G>A)
c.1569G>A (p.Glu523=)
c.1701G>A (p.Glu567=)
n.330-3317C>T
6g.33440798G>CCA363692977SYNGAP1,SYNGAP1-AS1c.1488G>C (p.Glu496Asp)
c.1746G>C (p.Glu582Asp)
c.*143G>C (n.*143G>C)
c.1569G>C (p.Glu523Asp)
c.1701G>C (p.Glu567Asp)
n.330-3317C>G
6g.33440798G>TCA363692981SYNGAP1,SYNGAP1-AS1c.1488G>T (p.Glu496Asp)
c.1746G>T (p.Glu582Asp)
c.*143G>T (n.*143G>T)
c.1569G>T (p.Glu523Asp)
c.1701G>T (p.Glu567Asp)
n.330-3317C>A
6g.33440799G>ACA363692997SYNGAP1,SYNGAP1-AS1c.1489G>A (p.Asp497Asn)
c.1747G>A (p.Asp583Asn)
c.*144G>A (n.*144G>A)
c.1570G>A (p.Asp524Asn)
c.1702G>A (p.Asp568Asn)
n.330-3318C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33440799G>CCA363692998SYNGAP1,SYNGAP1-AS1c.1489G>C (p.Asp497His)
c.1747G>C (p.Asp583His)
c.*144G>C (n.*144G>C)
c.1570G>C (p.Asp524His)
c.1702G>C (p.Asp568His)
n.330-3318C>G
6g.33440799G=CA1620013524SYNGAP1,SYNGAP1-AS1c.1489G= (p.Asp497=)
c.1747G= (p.Asp583=)
c.*144G= (n.*144G=)
c.1570G= (p.Asp524=)
c.1702G= (p.Asp568=)
n.330-3318C=
6g.33440799G>TCA363692999SYNGAP1,SYNGAP1-AS1c.1489G>T (p.Asp497Tyr)
c.1747G>T (p.Asp583Tyr)
c.*144G>T (n.*144G>T)
c.1570G>T (p.Asp524Tyr)
c.1702G>T (p.Asp568Tyr)
n.330-3318C>A
6g.33440803_33440811dupCA2695202897SYNGAP1,SYNGAP1-AS1c.1493_1501dup (p.Asp500_Arg501insIleAlaAsp)
c.1751_1759dup (p.Asp586_Arg587insIleAlaAsp)
c.*148_*156dup (n.*148_*156dup)
c.1574_1582dup (p.Asp527_Arg528insIleAlaAsp)
c.1706_1714dup (p.Asp571_Arg572insIleAlaAsp)
n.330-3326_330-3318dup
6g.33440800A>CCA363693000SYNGAP1,SYNGAP1-AS1c.1490A>C (p.Asp497Ala)
c.1748A>C (p.Asp583Ala)
c.*145A>C (n.*145A>C)
c.1571A>C (p.Asp524Ala)
c.1703A>C (p.Asp568Ala)
n.330-3319T>G
6g.33440800A>GCA363693001SYNGAP1,SYNGAP1-AS1c.1490A>G (p.Asp497Gly)
c.1748A>G (p.Asp583Gly)
c.*145A>G (n.*145A>G)
c.1571A>G (p.Asp524Gly)
c.1703A>G (p.Asp568Gly)
n.330-3319T>C
6g.33440800A>TCA363693002SYNGAP1,SYNGAP1-AS1c.1490A>T (p.Asp497Val)
c.1748A>T (p.Asp583Val)
c.*145A>T (n.*145A>T)
c.1571A>T (p.Asp524Val)
c.1703A>T (p.Asp568Val)
n.330-3319T>A
6g.33440801C>ACA363693004SYNGAP1,SYNGAP1-AS1c.1491C>A (p.Asp497Glu)
c.1749C>A (p.Asp583Glu)
c.*146C>A (n.*146C>A)
c.1572C>A (p.Asp524Glu)
c.1704C>A (p.Asp568Glu)
n.330-3320G>T
6g.33440801C>GCA363693006SYNGAP1,SYNGAP1-AS1c.1491C>G (p.Asp497Glu)
c.1749C>G (p.Asp583Glu)
c.*146C>G (n.*146C>G)
c.1572C>G (p.Asp524Glu)
c.1704C>G (p.Asp568Glu)
n.330-3320G>C
6g.33440801C>TCA450108038SYNGAP1,SYNGAP1-AS1c.1491C>T (p.Asp497=)
c.1749C>T (p.Asp583=)
c.*146C>T (n.*146C>T)
c.1572C>T (p.Asp524=)
c.1704C>T (p.Asp568=)
n.330-3320G>A
6g.33440802_33440804delCA2695202898SYNGAP1,SYNGAP1-AS1c.1492_1494del (p.Ile498del)
c.1750_1752del (p.Ile584del)
c.*147_*149del (n.*147_*149del)
c.1573_1575del (p.Ile525del)
c.1705_1707del (p.Ile569del)
n.330-3322_330-3320del
6g.33440802A=CA1620013525SYNGAP1,SYNGAP1-AS1c.1492A= (p.Ile498=)
c.1750A= (p.Ile584=)
c.*147A= (n.*147A=)
c.1573A= (p.Ile525=)
c.1705A= (p.Ile569=)
n.330-3321T=
6g.33440802A>CCA363693008SYNGAP1,SYNGAP1-AS1c.1492A>C (p.Ile498Leu)
c.1750A>C (p.Ile584Leu)
c.*147A>C (n.*147A>C)
c.1573A>C (p.Ile525Leu)
c.1705A>C (p.Ile569Leu)
n.330-3321T>G
6g.33440802A>GCA363693010SYNGAP1,SYNGAP1-AS1c.1492A>G (p.Ile498Val)
c.1750A>G (p.Ile584Val)
c.*147A>G (n.*147A>G)
c.1573A>G (p.Ile525Val)
c.1705A>G (p.Ile569Val)
n.330-3321T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33440802A>TCA363693013SYNGAP1,SYNGAP1-AS1c.1492A>T (p.Ile498Phe)
c.1750A>T (p.Ile584Phe)
c.*147A>T (n.*147A>T)
c.1573A>T (p.Ile525Phe)
c.1705A>T (p.Ile569Phe)
n.330-3321T>A
6g.33440803T>ACA363693018SYNGAP1,SYNGAP1-AS1c.1493T>A (p.Ile498Asn)
c.1751T>A (p.Ile584Asn)
c.*148T>A (n.*148T>A)
c.1574T>A (p.Ile525Asn)
c.1706T>A (p.Ile569Asn)
n.330-3322A>T
6g.33440803T>CCA363693024SYNGAP1,SYNGAP1-AS1c.1493T>C (p.Ile498Thr)
c.1751T>C (p.Ile584Thr)
c.*148T>C (n.*148T>C)
c.1574T>C (p.Ile525Thr)
c.1706T>C (p.Ile569Thr)
n.330-3322A>G
6g.33440803T>GCA363693021SYNGAP1,SYNGAP1-AS1c.1493T>G (p.Ile498Ser)
c.1751T>G (p.Ile584Ser)
c.*148T>G (n.*148T>G)
c.1574T>G (p.Ile525Ser)
c.1706T>G (p.Ile569Ser)
n.330-3322A>C
6g.33440804C>ACA450108049SYNGAP1,SYNGAP1-AS1c.1494C>A (p.Ile498=)
c.1752C>A (p.Ile584=)
c.*149C>A (n.*149C>A)
c.1575C>A (p.Ile525=)
c.1707C>A (p.Ile569=)
n.330-3323G>T
 gnomAD v4
6g.33440804C=CA1620013526SYNGAP1,SYNGAP1-AS1c.1494C= (p.Ile498=)
c.1752C= (p.Ile584=)
c.*149C= (n.*149C=)
c.1575C= (p.Ile525=)
c.1707C= (p.Ile569=)
n.330-3323G=
6g.33440804C>GCA363693028SYNGAP1,SYNGAP1-AS1c.1494C>G (p.Ile498Met)
c.1752C>G (p.Ile584Met)
c.*149C>G (n.*149C>G)
c.1575C>G (p.Ile525Met)
c.1707C>G (p.Ile569Met)
n.330-3323G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33440804C>TCA450108052SYNGAP1,SYNGAP1-AS1c.1494C>T (p.Ile498=)
c.1752C>T (p.Ile584=)
c.*149C>T (n.*149C>T)
c.1575C>T (p.Ile525=)
c.1707C>T (p.Ile569=)
n.330-3323G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33440805G>ACA363693034SYNGAP1,SYNGAP1-AS1c.1495G>A (p.Ala499Thr)
c.1753G>A (p.Ala585Thr)
c.*150G>A (n.*150G>A)
c.1576G>A (p.Ala526Thr)
c.1708G>A (p.Ala570Thr)
n.330-3324C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33440805G>CCA363693036SYNGAP1,SYNGAP1-AS1c.1495G>C (p.Ala499Pro)
c.1753G>C (p.Ala585Pro)
c.*150G>C (n.*150G>C)
c.1576G>C (p.Ala526Pro)
c.1708G>C (p.Ala570Pro)
n.330-3324C>G
6g.33440805G=CA1620013527SYNGAP1,SYNGAP1-AS1c.1495G= (p.Ala499=)
c.1753G= (p.Ala585=)
c.*150G= (n.*150G=)
c.1576G= (p.Ala526=)
c.1708G= (p.Ala570=)
n.330-3324C=
6g.33440805G>TCA363693039SYNGAP1,SYNGAP1-AS1c.1495G>T (p.Ala499Ser)
c.1753G>T (p.Ala585Ser)
c.*150G>T (n.*150G>T)
c.1576G>T (p.Ala526Ser)
c.1708G>T (p.Ala570Ser)
n.330-3324C>A
6g.33440806C>ACA363693044SYNGAP1,SYNGAP1-AS1c.1496C>A (p.Ala499Glu)
c.1754C>A (p.Ala585Glu)
c.*151C>A (n.*151C>A)
c.1577C>A (p.Ala526Glu)
c.1709C>A (p.Ala570Glu)
n.330-3325G>T
6g.33440806C>GCA363693048SYNGAP1,SYNGAP1-AS1c.1496C>G (p.Ala499Gly)
c.1754C>G (p.Ala585Gly)
c.*151C>G (n.*151C>G)
c.1577C>G (p.Ala526Gly)
c.1709C>G (p.Ala570Gly)
n.330-3325G>C
6g.33440806C>TCA363693051SYNGAP1,SYNGAP1-AS1c.1496C>T (p.Ala499Val)
c.1754C>T (p.Ala585Val)
c.*151C>T (n.*151C>T)
c.1577C>T (p.Ala526Val)
c.1709C>T (p.Ala570Val)
n.330-3325G>A
 COSMIC COSMIC
6g.33440807A>CCA450108063SYNGAP1,SYNGAP1-AS1c.1497A>C (p.Ala499=)
c.1755A>C (p.Ala585=)
c.*152A>C (n.*152A>C)
c.1578A>C (p.Ala526=)
c.1710A>C (p.Ala570=)
n.330-3326T>G
6g.33440807A>GCA450108067SYNGAP1,SYNGAP1-AS1c.1497A>G (p.Ala499=)
c.1755A>G (p.Ala585=)
c.*152A>G (n.*152A>G)
c.1578A>G (p.Ala526=)
c.1710A>G (p.Ala570=)
n.330-3326T>C
6g.33440807A>TCA450108070SYNGAP1,SYNGAP1-AS1c.1497A>T (p.Ala499=)
c.1755A>T (p.Ala585=)
c.*152A>T (n.*152A>T)
c.1578A>T (p.Ala526=)
c.1710A>T (p.Ala570=)
n.330-3326T>A
6g.33440808G>ACA363693057SYNGAP1,SYNGAP1-AS1c.1498G>A (p.Asp500Asn)
c.1756G>A (p.Asp586Asn)
c.*153G>A (n.*153G>A)
c.1579G>A (p.Asp527Asn)
c.1711G>A (p.Asp571Asn)
n.330-3327C>T
6g.33440808G>CCA363693061SYNGAP1,SYNGAP1-AS1c.1498G>C (p.Asp500His)
c.1756G>C (p.Asp586His)
c.*153G>C (n.*153G>C)
c.1579G>C (p.Asp527His)
c.1711G>C (p.Asp571His)
n.330-3327C>G
6g.33440808G>TCA363693070SYNGAP1,SYNGAP1-AS1c.1498G>T (p.Asp500Tyr)
c.1756G>T (p.Asp586Tyr)
c.*153G>T (n.*153G>T)
c.1579G>T (p.Asp527Tyr)
c.1711G>T (p.Asp571Tyr)
n.330-3327C>A
6g.33440809A>CCA363693081SYNGAP1,SYNGAP1-AS1c.1499A>C (p.Asp500Ala)
c.1757A>C (p.Asp586Ala)
c.*154A>C (n.*154A>C)
c.1580A>C (p.Asp527Ala)
c.1712A>C (p.Asp571Ala)
n.330-3328T>G
6g.33440809A>GCA363693078SYNGAP1,SYNGAP1-AS1c.1499A>G (p.Asp500Gly)
c.1757A>G (p.Asp586Gly)
c.*154A>G (n.*154A>G)
c.1580A>G (p.Asp527Gly)
c.1712A>G (p.Asp571Gly)
n.330-3328T>C
6g.33440809A>TCA363693075SYNGAP1,SYNGAP1-AS1c.1499A>T (p.Asp500Val)
c.1757A>T (p.Asp586Val)
c.*154A>T (n.*154A>T)
c.1580A>T (p.Asp527Val)
c.1712A>T (p.Asp571Val)
n.330-3328T>A
6g.33440810C>ACA363693086SYNGAP1,SYNGAP1-AS1c.1500C>A (p.Asp500Glu)
c.1758C>A (p.Asp586Glu)
c.*155C>A (n.*155C>A)
c.1581C>A (p.Asp527Glu)
c.1713C>A (p.Asp571Glu)
n.330-3329G>T
6g.33440810C=CA1620013528SYNGAP1,SYNGAP1-AS1c.1500C= (p.Asp500=)
c.1758C= (p.Asp586=)
c.*155C= (n.*155C=)
c.1581C= (p.Asp527=)
c.1713C= (p.Asp571=)
n.330-3329G=
6g.33440810C>GCA363693097SYNGAP1,SYNGAP1-AS1c.1500C>G (p.Asp500Glu)
c.1758C>G (p.Asp586Glu)
c.*155C>G (n.*155C>G)
c.1581C>G (p.Asp527Glu)
c.1713C>G (p.Asp571Glu)
n.330-3329G>C
6g.33440810C>TCA450108091SYNGAP1,SYNGAP1-AS1c.1500C>T (p.Asp500=)
c.1758C>T (p.Asp586=)
c.*155C>T (n.*155C>T)
c.1581C>T (p.Asp527=)
c.1713C>T (p.Asp571=)
n.330-3329G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33440811A=CA1620013529SYNGAP1,SYNGAP1-AS1c.1501A= (p.Arg501=)
c.1759A= (p.Arg587=)
c.*156A= (n.*156A=)
c.1582A= (p.Arg528=)
c.1714A= (p.Arg572=)
n.330-3330T=
6g.33440811A>CCA450108094SYNGAP1,SYNGAP1-AS1c.1501A>C (p.Arg501=)
c.1759A>C (p.Arg587=)
c.*156A>C (n.*156A>C)
c.1582A>C (p.Arg528=)
c.1714A>C (p.Arg572=)
n.330-3330T>G
6g.33440811A>GCA3758704SYNGAP1,SYNGAP1-AS1c.1501A>G (p.Arg501Gly)
c.1759A>G (p.Arg587Gly)
c.*156A>G (n.*156A>G)
c.1582A>G (p.Arg528Gly)
c.1714A>G (p.Arg572Gly)
n.330-3330T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440811A>TCA363693102SYNGAP1,SYNGAP1-AS1c.1501A>T (p.Arg501Trp)
c.1759A>T (p.Arg587Trp)
c.*156A>T (n.*156A>T)
c.1582A>T (p.Arg528Trp)
c.1714A>T (p.Arg572Trp)
n.330-3330T>A
 gnomAD v4
6g.33440812G>ACA363693106SYNGAP1,SYNGAP1-AS1c.1502G>A (p.Arg501Lys)
c.1760G>A (p.Arg587Lys)
c.*157G>A (n.*157G>A)
c.1583G>A (p.Arg528Lys)
c.1715G>A (p.Arg572Lys)
n.330-3331C>T
6g.33440812G>CCA363693116SYNGAP1,SYNGAP1-AS1c.1502G>C (p.Arg501Thr)
c.1760G>C (p.Arg587Thr)
c.*157G>C (n.*157G>C)
c.1583G>C (p.Arg528Thr)
c.1715G>C (p.Arg572Thr)
n.330-3331C>G
 ClinVar dbSNP
6g.33440812G=CA1620013530SYNGAP1,SYNGAP1-AS1c.1502G= (p.Arg501=)
c.1760G= (p.Arg587=)
c.*157G= (n.*157G=)
c.1583G= (p.Arg528=)
c.1715G= (p.Arg572=)
n.330-3331C=
6g.33440812G>TCA363693129SYNGAP1,SYNGAP1-AS1c.1502G>T (p.Arg501Met)
c.1760G>T (p.Arg587Met)
c.*157G>T (n.*157G>T)
c.1583G>T (p.Arg528Met)
c.1715G>T (p.Arg572Met)
n.330-3331C>A
6g.33440813delCA2580074407SYNGAP1,SYNGAP1-AS1c.1503del (p.Arg501SerfsTer?)
c.1761del (p.Arg587SerfsTer?)
c.*158del (n.*158del)
c.1584del (p.Arg528SerfsTer?)
c.1716del (p.Arg572SerfsTer?)
n.330-3331del
 ClinVar
6g.33440813G>ACA450108127SYNGAP1,SYNGAP1-AS1c.1503G>A (p.Arg501=)
c.1761G>A (p.Arg587=)
c.*158G>A (n.*158G>A)
c.1584G>A (p.Arg528=)
c.1716G>A (p.Arg572=)
n.330-3332C>T
6g.33440813G>CCA363693130SYNGAP1,SYNGAP1-AS1c.1503G>C (p.Arg501Ser)
c.1761G>C (p.Arg587Ser)
c.*158G>C (n.*158G>C)
c.1584G>C (p.Arg528Ser)
c.1716G>C (p.Arg572Ser)
n.330-3332C>G
6g.33440813G=CA1620013531SYNGAP1,SYNGAP1-AS1c.1503G= (p.Arg501=)
c.1761G= (p.Arg587=)
c.*158G= (n.*158G=)
c.1584G= (p.Arg528=)
c.1716G= (p.Arg572=)
n.330-3332C=
6g.33440813G>TCA3758705SYNGAP1,SYNGAP1-AS1c.1503G>T (p.Arg501Ser)
c.1761G>T (p.Arg587Ser)
c.*158G>T (n.*158G>T)
c.1584G>T (p.Arg528Ser)
c.1716G>T (p.Arg572Ser)
n.330-3332C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440814C>ACA363693134SYNGAP1,SYNGAP1-AS1c.1504C>A (p.Leu502Ile)
c.1762C>A (p.Leu588Ile)
c.*159C>A (n.*159C>A)
c.1585C>A (p.Leu529Ile)
c.1717C>A (p.Leu573Ile)
n.330-3333G>T
6g.33440814C=CA1620013532SYNGAP1,SYNGAP1-AS1c.1504C= (p.Leu502=)
c.1762C= (p.Leu588=)
c.*159C= (n.*159C=)
c.1585C= (p.Leu529=)
c.1717C= (p.Leu573=)
n.330-3333G=
6g.33440814C>GCA363693135SYNGAP1,SYNGAP1-AS1c.1504C>G (p.Leu502Val)
c.1762C>G (p.Leu588Val)
c.*159C>G (n.*159C>G)
c.1585C>G (p.Leu529Val)
c.1717C>G (p.Leu573Val)
n.330-3333G>C
6g.33440814C>TCA363693136SYNGAP1,SYNGAP1-AS1c.1504C>T (p.Leu502Phe)
c.1762C>T (p.Leu588Phe)
c.*159C>T (n.*159C>T)
c.1585C>T (p.Leu529Phe)
c.1717C>T (p.Leu573Phe)
n.330-3333G>A
 dbSNP gnomAD v4
6g.33440815T>ACA16618281SYNGAP1,SYNGAP1-AS1c.1505T>A (p.Leu502His)
c.1763T>A (p.Leu588His)
c.*160T>A (n.*160T>A)
c.1586T>A (p.Leu529His)
c.1718T>A (p.Leu573His)
n.330-3334A>T
 ClinVar dbSNP
6g.33440815T>CCA363693142SYNGAP1,SYNGAP1-AS1c.1505T>C (p.Leu502Pro)
c.1763T>C (p.Leu588Pro)
c.*160T>C (n.*160T>C)
c.1586T>C (p.Leu529Pro)
c.1718T>C (p.Leu573Pro)
n.330-3334A>G
 ClinVar
6g.33440815T>GCA363693139SYNGAP1,SYNGAP1-AS1c.1505T>G (p.Leu502Arg)
c.1763T>G (p.Leu588Arg)
c.*160T>G (n.*160T>G)
c.1586T>G (p.Leu529Arg)
c.1718T>G (p.Leu573Arg)
n.330-3334A>C
6g.33440815T=CA1620013533SYNGAP1,SYNGAP1-AS1c.1505T= (p.Leu502=)
c.1763T= (p.Leu588=)
c.*160T= (n.*160T=)
c.1586T= (p.Leu529=)
c.1718T= (p.Leu573=)
n.330-3334A=
6g.33440816T>ACA450108136SYNGAP1,SYNGAP1-AS1c.1506T>A (p.Leu502=)
c.1764T>A (p.Leu588=)
c.*161T>A (n.*161T>A)
c.1587T>A (p.Leu529=)
c.1719T>A (p.Leu573=)
n.330-3335A>T
6g.33440816T>CCA450108139SYNGAP1,SYNGAP1-AS1c.1506T>C (p.Leu502=)
c.1764T>C (p.Leu588=)
c.*161T>C (n.*161T>C)
c.1587T>C (p.Leu529=)
c.1719T>C (p.Leu573=)
n.330-3335A>G
 gnomAD v4
6g.33440816T>GCA450108142SYNGAP1,SYNGAP1-AS1c.1506T>G (p.Leu502=)
c.1764T>G (p.Leu588=)
c.*161T>G (n.*161T>G)
c.1587T>G (p.Leu529=)
c.1719T>G (p.Leu573=)
n.330-3335A>C
6g.33440817A>CCA363693145SYNGAP1,SYNGAP1-AS1c.1507A>C (p.Ile503Leu)
c.1765A>C (p.Ile589Leu)
c.*162A>C (n.*162A>C)
c.1588A>C (p.Ile530Leu)
c.1720A>C (p.Ile574Leu)
n.330-3336T>G
6g.33440817A>GCA363693148SYNGAP1,SYNGAP1-AS1c.1507A>G (p.Ile503Val)
c.1765A>G (p.Ile589Val)
c.*162A>G (n.*162A>G)
c.1588A>G (p.Ile530Val)
c.1720A>G (p.Ile574Val)
n.330-3336T>C
6g.33440817A>TCA363693150SYNGAP1,SYNGAP1-AS1c.1507A>T (p.Ile503Phe)
c.1765A>T (p.Ile589Phe)
c.*162A>T (n.*162A>T)
c.1588A>T (p.Ile530Phe)
c.1720A>T (p.Ile574Phe)
n.330-3336T>A
6g.33440818T>ACA363693155SYNGAP1,SYNGAP1-AS1c.1508T>A (p.Ile503Asn)
c.1766T>A (p.Ile589Asn)
c.*163T>A (n.*163T>A)
c.1589T>A (p.Ile530Asn)
c.1721T>A (p.Ile574Asn)
n.330-3337A>T
6g.33440818T>CCA363693159SYNGAP1,SYNGAP1-AS1c.1508T>C (p.Ile503Thr)
c.1766T>C (p.Ile589Thr)
c.*163T>C (n.*163T>C)
c.1589T>C (p.Ile530Thr)
c.1721T>C (p.Ile574Thr)
n.330-3337A>G
6g.33440818T>GCA363693185SYNGAP1,SYNGAP1-AS1c.1508T>G (p.Ile503Ser)
c.1766T>G (p.Ile589Ser)
c.*163T>G (n.*163T>G)
c.1589T>G (p.Ile530Ser)
c.1721T>G (p.Ile574Ser)
n.330-3337A>C
6g.33440819C>ACA450108159SYNGAP1,SYNGAP1-AS1c.1509C>A (p.Ile503=)
c.1767C>A (p.Ile589=)
c.*164C>A (n.*164C>A)
c.1590C>A (p.Ile530=)
c.1722C>A (p.Ile574=)
n.330-3338G>T
6g.33440819C=CA1620013534SYNGAP1,SYNGAP1-AS1c.1509C= (p.Ile503=)
c.1767C= (p.Ile589=)
c.*164C= (n.*164C=)
c.1590C= (p.Ile530=)
c.1722C= (p.Ile574=)
n.330-3338G=
6g.33440819C>GCA363693188SYNGAP1,SYNGAP1-AS1c.1509C>G (p.Ile503Met)
c.1767C>G (p.Ile589Met)
c.*164C>G (n.*164C>G)
c.1590C>G (p.Ile530Met)
c.1722C>G (p.Ile574Met)
n.330-3338G>C
 ClinVar dbSNP
6g.33440819C>TCA450108164SYNGAP1,SYNGAP1-AS1c.1509C>T (p.Ile503=)
c.1767C>T (p.Ile589=)
c.*164C>T (n.*164C>T)
c.1590C>T (p.Ile530=)
c.1722C>T (p.Ile574=)
n.330-3338G>A
6g.33440820A=CA1620013535SYNGAP1,SYNGAP1-AS1c.1510A= (p.Ser504=)
c.1768A= (p.Ser590=)
c.*165A= (n.*165A=)
c.1591A= (p.Ser531=)
c.1723A= (p.Ser575=)
n.330-3339T=
6g.33440820A>CCA363693191SYNGAP1,SYNGAP1-AS1c.1510A>C (p.Ser504Arg)
c.1768A>C (p.Ser590Arg)
c.*165A>C (n.*165A>C)
c.1591A>C (p.Ser531Arg)
c.1723A>C (p.Ser575Arg)
n.330-3339T>G
6g.33440820A>GCA363693193SYNGAP1,SYNGAP1-AS1c.1510A>G (p.Ser504Gly)
c.1768A>G (p.Ser590Gly)
c.*165A>G (n.*165A>G)
c.1591A>G (p.Ser531Gly)
c.1723A>G (p.Ser575Gly)
n.330-3339T>C
 ClinVar dbSNP gnomAD v4
6g.33440820A>TCA363693195SYNGAP1,SYNGAP1-AS1c.1510A>T (p.Ser504Cys)
c.1768A>T (p.Ser590Cys)
c.*165A>T (n.*165A>T)
c.1591A>T (p.Ser531Cys)
c.1723A>T (p.Ser575Cys)
n.330-3339T>A
6g.33440821G>ACA363693200SYNGAP1,SYNGAP1-AS1c.1511G>A (p.Ser504Asn)
c.1769G>A (p.Ser590Asn)
c.*166G>A (n.*166G>A)
c.1592G>A (p.Ser531Asn)
c.1724G>A (p.Ser575Asn)
n.330-3340C>T
6g.33440821G>CCA363693206SYNGAP1,SYNGAP1-AS1c.1511G>C (p.Ser504Thr)
c.1769G>C (p.Ser590Thr)
c.*166G>C (n.*166G>C)
c.1592G>C (p.Ser531Thr)
c.1724G>C (p.Ser575Thr)
n.330-3340C>G
6g.33440821G>TCA363693208SYNGAP1,SYNGAP1-AS1c.1511G>T (p.Ser504Ile)
c.1769G>T (p.Ser590Ile)
c.*166G>T (n.*166G>T)
c.1592G>T (p.Ser531Ile)
c.1724G>T (p.Ser575Ile)
n.330-3340C>A
6g.33440822C>ACA363693214SYNGAP1,SYNGAP1-AS1c.1512C>A (p.Ser504Arg)
c.1770C>A (p.Ser590Arg)
c.*167C>A (n.*167C>A)
c.1593C>A (p.Ser531Arg)
c.1725C>A (p.Ser575Arg)
n.330-3341G>T
6g.33440822C=CA1620013536SYNGAP1,SYNGAP1-AS1c.1512C= (p.Ser504=)
c.1770C= (p.Ser590=)
c.*167C= (n.*167C=)
c.1593C= (p.Ser531=)
c.1725C= (p.Ser575=)
n.330-3341G=
6g.33440822C>GCA363693212SYNGAP1,SYNGAP1-AS1c.1512C>G (p.Ser504Arg)
c.1770C>G (p.Ser590Arg)
c.*167C>G (n.*167C>G)
c.1593C>G (p.Ser531Arg)
c.1725C>G (p.Ser575Arg)
n.330-3341G>C
6g.33440822C>TCA3758706SYNGAP1,SYNGAP1-AS1c.1512C>T (p.Ser504=)
c.1770C>T (p.Ser590=)
c.*167C>T (n.*167C>T)
c.1593C>T (p.Ser531=)
c.1725C>T (p.Ser575=)
n.330-3341G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440823G>ACA137098902SYNGAP1,SYNGAP1-AS1c.1513G>A (p.Ala505Thr)
c.1771G>A (p.Ala591Thr)
c.*168G>A (n.*168G>A)
c.1594G>A (p.Ala532Thr)
c.1726G>A (p.Ala576Thr)
n.330-3342C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440823G>CCA363693223SYNGAP1,SYNGAP1-AS1c.1513G>C (p.Ala505Pro)
c.1771G>C (p.Ala591Pro)
c.*168G>C (n.*168G>C)
c.1594G>C (p.Ala532Pro)
c.1726G>C (p.Ala576Pro)
n.330-3342C>G
 ClinVar
6g.33440823G=CA1620013537SYNGAP1,SYNGAP1-AS1c.1513G= (p.Ala505=)
c.1771G= (p.Ala591=)
c.*168G= (n.*168G=)
c.1594G= (p.Ala532=)
c.1726G= (p.Ala576=)
n.330-3342C=
6g.33440823G>TCA363693219SYNGAP1,SYNGAP1-AS1c.1513G>T (p.Ala505Ser)
c.1771G>T (p.Ala591Ser)
c.*168G>T (n.*168G>T)
c.1594G>T (p.Ala532Ser)
c.1726G>T (p.Ala576Ser)
n.330-3342C>A
6g.33440824C>ACA363693226SYNGAP1,SYNGAP1-AS1c.1514C>A (p.Ala505Asp)
c.1772C>A (p.Ala591Asp)
c.*169C>A (n.*169C>A)
c.1595C>A (p.Ala532Asp)
c.1727C>A (p.Ala576Asp)
n.330-3343G>T
6g.33440824C=CA1620013538SYNGAP1,SYNGAP1-AS1c.1514C= (p.Ala505=)
c.1772C= (p.Ala591=)
c.*169C= (n.*169C=)
c.1595C= (p.Ala532=)
c.1727C= (p.Ala576=)
n.330-3343G=
6g.33440824C>GCA363693230SYNGAP1,SYNGAP1-AS1c.1514C>G (p.Ala505Gly)
c.1772C>G (p.Ala591Gly)
c.*169C>G (n.*169C>G)
c.1595C>G (p.Ala532Gly)
c.1727C>G (p.Ala576Gly)
n.330-3343G>C
6g.33440824C>TCA3758707SYNGAP1,SYNGAP1-AS1c.1514C>T (p.Ala505Val)
c.1772C>T (p.Ala591Val)
c.*169C>T (n.*169C>T)
c.1595C>T (p.Ala532Val)
c.1727C>T (p.Ala576Val)
n.330-3343G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440825C>ACA450108188SYNGAP1,SYNGAP1-AS1c.1515C>A (p.Ala505=)
c.1773C>A (p.Ala591=)
c.*170C>A (n.*170C>A)
c.1596C>A (p.Ala532=)
c.1728C>A (p.Ala576=)
n.330-3344G>T
6g.33440825C=CA1620013539SYNGAP1,SYNGAP1-AS1c.1515C= (p.Ala505=)
c.1773C= (p.Ala591=)
c.*170C= (n.*170C=)
c.1596C= (p.Ala532=)
c.1728C= (p.Ala576=)
n.330-3344G=
6g.33440825C>GCA450108189SYNGAP1,SYNGAP1-AS1c.1515C>G (p.Ala505=)
c.1773C>G (p.Ala591=)
c.*170C>G (n.*170C>G)
c.1596C>G (p.Ala532=)
c.1728C>G (p.Ala576=)
n.330-3344G>C
6g.33440825C>TCA450108192SYNGAP1,SYNGAP1-AS1c.1515C>T (p.Ala505=)
c.1773C>T (p.Ala591=)
c.*170C>T (n.*170C>T)
c.1596C>T (p.Ala532=)
c.1728C>T (p.Ala576=)
n.330-3344G>A
 dbSNP
6g.33440826T>ACA363693231SYNGAP1,SYNGAP1-AS1c.1516T>A (p.Ser506Thr)
c.1774T>A (p.Ser592Thr)
c.*171T>A (n.*171T>A)
c.1597T>A (p.Ser533Thr)
c.1729T>A (p.Ser577Thr)
n.330-3345A>T
6g.33440826T>CCA363693232SYNGAP1,SYNGAP1-AS1c.1516T>C (p.Ser506Pro)
c.1774T>C (p.Ser592Pro)
c.*171T>C (n.*171T>C)
c.1597T>C (p.Ser533Pro)
c.1729T>C (p.Ser577Pro)
n.330-3345A>G
6g.33440826T>GCA363693234SYNGAP1,SYNGAP1-AS1c.1516T>G (p.Ser506Ala)
c.1774T>G (p.Ser592Ala)
c.*171T>G (n.*171T>G)
c.1597T>G (p.Ser533Ala)
c.1729T>G (p.Ser577Ala)
n.330-3345A>C
6g.33440827C>ACA363693239SYNGAP1,SYNGAP1-AS1c.1517C>A (p.Ser506Ter)
c.1775C>A (p.Ser592Ter)
c.*172C>A (n.*172C>A)
c.1598C>A (p.Ser533Ter)
c.1730C>A (p.Ser577Ter)
n.330-3346G>T
6g.33440827C>GCA363693241SYNGAP1,SYNGAP1-AS1c.1517C>G (p.Ser506Ter)
c.1775C>G (p.Ser592Ter)
c.*172C>G (n.*172C>G)
c.1598C>G (p.Ser533Ter)
c.1730C>G (p.Ser577Ter)
n.330-3346G>C
6g.33440827C>TCA363693245SYNGAP1,SYNGAP1-AS1c.1517C>T (p.Ser506Leu)
c.1775C>T (p.Ser592Leu)
c.*172C>T (n.*172C>T)
c.1598C>T (p.Ser533Leu)
c.1730C>T (p.Ser577Leu)
n.330-3346G>A
6g.33440828A=CA1620013540SYNGAP1,SYNGAP1-AS1c.1518A= (p.Ser506=)
c.1776A= (p.Ser592=)
c.*173A= (n.*173A=)
c.1599A= (p.Ser533=)
c.1731A= (p.Ser577=)
n.330-3347T=
6g.33440828A>CCA450108196SYNGAP1,SYNGAP1-AS1c.1518A>C (p.Ser506=)
c.1776A>C (p.Ser592=)
c.*173A>C (n.*173A>C)
c.1599A>C (p.Ser533=)
c.1731A>C (p.Ser577=)
n.330-3347T>G
6g.33440828A>GCA3758708SYNGAP1,SYNGAP1-AS1c.1518A>G (p.Ser506=)
c.1776A>G (p.Ser592=)
c.*173A>G (n.*173A>G)
c.1599A>G (p.Ser533=)
c.1731A>G (p.Ser577=)
n.330-3347T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440828A>TCA450108197SYNGAP1,SYNGAP1-AS1c.1518A>T (p.Ser506=)
c.1776A>T (p.Ser592=)
c.*173A>T (n.*173A>T)
c.1599A>T (p.Ser533=)
c.1731A>T (p.Ser577=)
n.330-3347T>A
6g.33440829C>ACA363693258SYNGAP1,SYNGAP1-AS1c.1519C>A (p.Leu507Ile)
c.1777C>A (p.Leu593Ile)
c.*174C>A (n.*174C>A)
c.1600C>A (p.Leu534Ile)
c.1732C>A (p.Leu578Ile)
n.330-3348G>T
6g.33440829C>GCA363693260SYNGAP1,SYNGAP1-AS1c.1519C>G (p.Leu507Val)
c.1777C>G (p.Leu593Val)
c.*174C>G (n.*174C>G)
c.1600C>G (p.Leu534Val)
c.1732C>G (p.Leu578Val)
n.330-3348G>C
6g.33440829C>TCA363693262SYNGAP1,SYNGAP1-AS1c.1519C>T (p.Leu507Phe)
c.1777C>T (p.Leu593Phe)
c.*174C>T (n.*174C>T)
c.1600C>T (p.Leu534Phe)
c.1732C>T (p.Leu578Phe)
n.330-3348G>A
6g.33440830T>ACA363693279SYNGAP1,SYNGAP1-AS1c.1520T>A (p.Leu507His)
c.1778T>A (p.Leu593His)
c.*175T>A (n.*175T>A)
c.1601T>A (p.Leu534His)
c.1733T>A (p.Leu578His)
n.330-3349A>T
 ClinVar
6g.33440830T>CCA363693284SYNGAP1,SYNGAP1-AS1c.1520T>C (p.Leu507Pro)
c.1778T>C (p.Leu593Pro)
c.*175T>C (n.*175T>C)
c.1601T>C (p.Leu534Pro)
c.1733T>C (p.Leu578Pro)
n.330-3349A>G
6g.33440830T>GCA363693287SYNGAP1,SYNGAP1-AS1c.1520T>G (p.Leu507Arg)
c.1778T>G (p.Leu593Arg)
c.*175T>G (n.*175T>G)
c.1601T>G (p.Leu534Arg)
c.1733T>G (p.Leu578Arg)
n.330-3349A>C
6g.33440831C>ACA450108202SYNGAP1,SYNGAP1-AS1c.1521C>A (p.Leu507=)
c.1779C>A (p.Leu593=)
c.*176C>A (n.*176C>A)
c.1602C>A (p.Leu534=)
c.1734C>A (p.Leu578=)
n.330-3350G>T
6g.33440831C>GCA450108204SYNGAP1,SYNGAP1-AS1c.1521C>G (p.Leu507=)
c.1779C>G (p.Leu593=)
c.*176C>G (n.*176C>G)
c.1602C>G (p.Leu534=)
c.1734C>G (p.Leu578=)
n.330-3350G>C
6g.33440831C>TCA450108205SYNGAP1,SYNGAP1-AS1c.1521C>T (p.Leu507=)
c.1779C>T (p.Leu593=)
c.*176C>T (n.*176C>T)
c.1602C>T (p.Leu534=)
c.1734C>T (p.Leu578=)
n.330-3350G>A
6g.33440832T>ACA363693289SYNGAP1,SYNGAP1-AS1c.1522T>A (p.Phe508Ile)
c.1780T>A (p.Phe594Ile)
c.*177T>A (n.*177T>A)
c.1603T>A (p.Phe535Ile)
c.1735T>A (p.Phe579Ile)
n.330-3351A>T
6g.33440832T>CCA363693293SYNGAP1,SYNGAP1-AS1c.1522T>C (p.Phe508Leu)
c.1780T>C (p.Phe594Leu)
c.*177T>C (n.*177T>C)
c.1603T>C (p.Phe535Leu)
c.1735T>C (p.Phe579Leu)
n.330-3351A>G
6g.33440832T>GCA363693291SYNGAP1,SYNGAP1-AS1c.1522T>G (p.Phe508Val)
c.1780T>G (p.Phe594Val)
c.*177T>G (n.*177T>G)
c.1603T>G (p.Phe535Val)
c.1735T>G (p.Phe579Val)
n.330-3351A>C
6g.33440833dupCA2695202069SYNGAP1,SYNGAP1-AS1c.1523dup (p.Leu509ProfsTer23)
c.1781dup (p.Leu595ProfsTer23)
c.*178dup (n.*178dup)
c.1604dup (p.Leu536ProfsTer23)
c.1736dup (p.Leu580ProfsTer23)
n.330-3351dup
6g.33440833T>ACA363693297SYNGAP1,SYNGAP1-AS1c.1523T>A (p.Phe508Tyr)
c.1781T>A (p.Phe594Tyr)
c.*178T>A (n.*178T>A)
c.1604T>A (p.Phe535Tyr)
c.1736T>A (p.Phe579Tyr)
n.330-3352A>T
6g.33440833T>CCA363693315SYNGAP1,SYNGAP1-AS1c.1523T>C (p.Phe508Ser)
c.1781T>C (p.Phe594Ser)
c.*178T>C (n.*178T>C)
c.1604T>C (p.Phe535Ser)
c.1736T>C (p.Phe579Ser)
n.330-3352A>G
6g.33440833T>GCA363693317SYNGAP1,SYNGAP1-AS1c.1523T>G (p.Phe508Cys)
c.1781T>G (p.Phe594Cys)
c.*178T>G (n.*178T>G)
c.1604T>G (p.Phe535Cys)
c.1736T>G (p.Phe579Cys)
n.330-3352A>C
6g.33440833_33440834delinsTCCA1620013541SYNGAP1,SYNGAP1-AS1c.1523_1524delinsTC (p.Phe508=)
c.1781_1782delinsTC (p.Phe594=)
c.*178_*179delinsTC (n.*178_*179delinsTC)
c.1604_1605delinsTC (p.Phe535=)
c.1736_1737delinsTC (p.Phe579=)
n.330-3353_330-3352delinsGA
6g.33440834C>ACA363693319SYNGAP1,SYNGAP1-AS1c.1524C>A (p.Phe508Leu)
c.1782C>A (p.Phe594Leu)
c.*179C>A (n.*179C>A)
c.1605C>A (p.Phe535Leu)
c.1737C>A (p.Phe579Leu)
n.330-3353G>T
6g.33440834C>GCA363693320SYNGAP1,SYNGAP1-AS1c.1524C>G (p.Phe508Leu)
c.1782C>G (p.Phe594Leu)
c.*179C>G (n.*179C>G)
c.1605C>G (p.Phe535Leu)
c.1737C>G (p.Phe579Leu)
n.330-3353G>C
6g.33440834C>TCA450108210SYNGAP1,SYNGAP1-AS1c.1524C>T (p.Phe508=)
c.1782C>T (p.Phe594=)
c.*179C>T (n.*179C>T)
c.1605C>T (p.Phe535=)
c.1737C>T (p.Phe579=)
n.330-3353G>A
6g.33440835dupCA2695202064SYNGAP1,SYNGAP1-AS1c.1525dup (p.Leu509ProfsTer23)
c.1783dup (p.Leu595ProfsTer23)
c.*180dup (n.*180dup)
c.1606dup (p.Leu536ProfsTer23)
c.1738dup (p.Leu580ProfsTer23)
n.330-3353dup
6g.33440835delCA155628SYNGAP1,SYNGAP1-AS1c.1525del (p.Leu509CysfsTer?)
c.1783del (p.Leu595CysfsTer?)
c.*180del (n.*180del)
c.1606del (p.Leu536CysfsTer?)
c.1738del (p.Leu580CysfsTer?)
n.330-3353del
 ClinVar dbSNP
6g.33440835C>ACA363693326SYNGAP1,SYNGAP1-AS1c.1525C>A (p.Leu509Met)
c.1783C>A (p.Leu595Met)
c.*180C>A (n.*180C>A)
c.1606C>A (p.Leu536Met)
c.1738C>A (p.Leu580Met)
n.330-3354G>T
6g.33440835C=CA1620013542SYNGAP1,SYNGAP1-AS1c.1525C= (p.Leu509=)
c.1783C= (p.Leu595=)
c.*180C= (n.*180C=)
c.1606C= (p.Leu536=)
c.1738C= (p.Leu580=)
n.330-3354G=
6g.33440835C>GCA363693328SYNGAP1,SYNGAP1-AS1c.1525C>G (p.Leu509Val)
c.1783C>G (p.Leu595Val)
c.*180C>G (n.*180C>G)
c.1606C>G (p.Leu536Val)
c.1738C>G (p.Leu580Val)
n.330-3354G>C
6g.33440835C>TCA3758709SYNGAP1,SYNGAP1-AS1c.1525C>T (p.Leu509=)
c.1783C>T (p.Leu595=)
c.*180C>T (n.*180C>T)
c.1606C>T (p.Leu536=)
c.1738C>T (p.Leu580=)
n.330-3354G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440836T>ACA363693344SYNGAP1,SYNGAP1-AS1c.1526T>A (p.Leu509Gln)
c.1784T>A (p.Leu595Gln)
c.*181T>A (n.*181T>A)
c.1607T>A (p.Leu536Gln)
c.1739T>A (p.Leu580Gln)
n.330-3355A>T
 ClinVar
6g.33440836T>CCA363693337SYNGAP1,SYNGAP1-AS1c.1526T>C (p.Leu509Pro)
c.1784T>C (p.Leu595Pro)
c.*181T>C (n.*181T>C)
c.1607T>C (p.Leu536Pro)
c.1739T>C (p.Leu580Pro)
n.330-3355A>G
6g.33440836T>GCA363693333SYNGAP1,SYNGAP1-AS1c.1526T>G (p.Leu509Arg)
c.1784T>G (p.Leu595Arg)
c.*181T>G (n.*181T>G)
c.1607T>G (p.Leu536Arg)
c.1739T>G (p.Leu580Arg)
n.330-3355A>C
6g.33440837G>ACA450108217SYNGAP1,SYNGAP1-AS1c.1527G>A (p.Leu509=)
c.1785G>A (p.Leu595=)
c.*182G>A (n.*182G>A)
c.1608G>A (p.Leu536=)
c.1740G>A (p.Leu580=)
n.330-3356C>T
6g.33440837G>CCA450108218SYNGAP1,SYNGAP1-AS1c.1527G>C (p.Leu509=)
c.1785G>C (p.Leu595=)
c.*182G>C (n.*182G>C)
c.1608G>C (p.Leu536=)
c.1740G>C (p.Leu580=)
n.330-3356C>G
6g.33440837G>TCA450108219SYNGAP1,SYNGAP1-AS1c.1527G>T (p.Leu509=)
c.1785G>T (p.Leu595=)
c.*182G>T (n.*182G>T)
c.1608G>T (p.Leu536=)
c.1740G>T (p.Leu580=)
n.330-3356C>A
6g.33440838C>ACA363693353SYNGAP1,SYNGAP1-AS1c.1528C>A (p.Arg510Ser)
c.1786C>A (p.Arg596Ser)
c.*183C>A (n.*183C>A)
c.1609C>A (p.Arg537Ser)
c.1741C>A (p.Arg581Ser)
n.330-3357G>T
6g.33440838C=CA1620013543SYNGAP1,SYNGAP1-AS1c.1528C= (p.Arg510=)
c.1786C= (p.Arg596=)
c.*183C= (n.*183C=)
c.1609C= (p.Arg537=)
c.1741C= (p.Arg581=)
n.330-3357G=
6g.33440838C>GCA363693349SYNGAP1,SYNGAP1-AS1c.1528C>G (p.Arg510Gly)
c.1786C>G (p.Arg596Gly)
c.*183C>G (n.*183C>G)
c.1609C>G (p.Arg537Gly)
c.1741C>G (p.Arg581Gly)
n.330-3357G>C
6g.33440838C>TCA3758710SYNGAP1,SYNGAP1-AS1c.1528C>T (p.Arg510Cys)
c.1786C>T (p.Arg596Cys)
c.*183C>T (n.*183C>T)
c.1609C>T (p.Arg537Cys)
c.1741C>T (p.Arg581Cys)
n.330-3357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440839G>ACA3758711SYNGAP1,SYNGAP1-AS1c.1529G>A (p.Arg510His)
c.1787G>A (p.Arg596His)
c.*184G>A (n.*184G>A)
c.1610G>A (p.Arg537His)
c.1742G>A (p.Arg581His)
n.330-3358C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440839G>CCA363693356SYNGAP1,SYNGAP1-AS1c.1529G>C (p.Arg510Pro)
c.1787G>C (p.Arg596Pro)
c.*184G>C (n.*184G>C)
c.1610G>C (p.Arg537Pro)
c.1742G>C (p.Arg581Pro)
n.330-3358C>G
6g.33440839G=CA1620013544SYNGAP1,SYNGAP1-AS1c.1529G= (p.Arg510=)
c.1787G= (p.Arg596=)
c.*184G= (n.*184G=)
c.1610G= (p.Arg537=)
c.1742G= (p.Arg581=)
n.330-3358C=
6g.33440839G>TCA363693369SYNGAP1,SYNGAP1-AS1c.1529G>T (p.Arg510Leu)
c.1787G>T (p.Arg596Leu)
c.*184G>T (n.*184G>T)
c.1610G>T (p.Arg537Leu)
c.1742G>T (p.Arg581Leu)
n.330-3358C>A
 ClinVar
6g.33440840C>ACA450108223SYNGAP1,SYNGAP1-AS1c.1530C>A (p.Arg510=)
c.1788C>A (p.Arg596=)
c.*185C>A (n.*185C>A)
c.1611C>A (p.Arg537=)
c.1743C>A (p.Arg581=)
n.330-3359G>T
6g.33440840C=CA1620013545SYNGAP1,SYNGAP1-AS1c.1530C= (p.Arg510=)
c.1788C= (p.Arg596=)
c.*185C= (n.*185C=)
c.1611C= (p.Arg537=)
c.1743C= (p.Arg581=)
n.330-3359G=
6g.33440840C>GCA450108225SYNGAP1,SYNGAP1-AS1c.1530C>G (p.Arg510=)
c.1788C>G (p.Arg596=)
c.*185C>G (n.*185C>G)
c.1611C>G (p.Arg537=)
c.1743C>G (p.Arg581=)
n.330-3359G>C
6g.33440840C>TCA3758712SYNGAP1,SYNGAP1-AS1c.1530C>T (p.Arg510=)
c.1788C>T (p.Arg596=)
c.*185C>T (n.*185C>T)
c.1611C>T (p.Arg537=)
c.1743C>T (p.Arg581=)
n.330-3359G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440841T>ACA363693382SYNGAP1,SYNGAP1-AS1c.1531T>A (p.Phe511Ile)
c.1789T>A (p.Phe597Ile)
c.*186T>A (n.*186T>A)
c.1612T>A (p.Phe538Ile)
c.1744T>A (p.Phe582Ile)
n.330-3360A>T
6g.33440841T>CCA363693376SYNGAP1,SYNGAP1-AS1c.1531T>C (p.Phe511Leu)
c.1789T>C (p.Phe597Leu)
c.*186T>C (n.*186T>C)
c.1612T>C (p.Phe538Leu)
c.1744T>C (p.Phe582Leu)
n.330-3360A>G
6g.33440841T>GCA363693379SYNGAP1,SYNGAP1-AS1c.1531T>G (p.Phe511Val)
c.1789T>G (p.Phe597Val)
c.*186T>G (n.*186T>G)
c.1612T>G (p.Phe538Val)
c.1744T>G (p.Phe582Val)
n.330-3360A>C
6g.33440842T>ACA363693391SYNGAP1,SYNGAP1-AS1c.1532T>A (p.Phe511Tyr)
c.1790T>A (p.Phe597Tyr)
c.*187T>A (n.*187T>A)
c.1613T>A (p.Phe538Tyr)
c.1745T>A (p.Phe582Tyr)
n.330-3361A>T
6g.33440842T>CCA363693395SYNGAP1,SYNGAP1-AS1c.1532T>C (p.Phe511Ser)
c.1790T>C (p.Phe597Ser)
c.*187T>C (n.*187T>C)
c.1613T>C (p.Phe538Ser)
c.1745T>C (p.Phe582Ser)
n.330-3361A>G
6g.33440842T>GCA3758713SYNGAP1,SYNGAP1-AS1c.1532T>G (p.Phe511Cys)
c.1790T>G (p.Phe597Cys)
c.*187T>G (n.*187T>G)
c.1613T>G (p.Phe538Cys)
c.1745T>G (p.Phe582Cys)
n.330-3361A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440842T=CA1620013546SYNGAP1,SYNGAP1-AS1c.1532T= (p.Phe511=)
c.1790T= (p.Phe597=)
c.*187T= (n.*187T=)
c.1613T= (p.Phe538=)
c.1745T= (p.Phe582=)
n.330-3361A=
6g.33440842_33440843delinsTCCA1620013547SYNGAP1,SYNGAP1-AS1c.1532_1533delinsTC (p.Phe511=)
c.1790_1791delinsTC (p.Phe597=)
c.*187_*188delinsTC (n.*187_*188delinsTC)
c.1613_1614delinsTC (p.Phe538=)
c.1745_1746delinsTC (p.Phe582=)
n.330-3362_330-3361delinsGA
6g.33440843C>ACA363693401SYNGAP1,SYNGAP1-AS1c.1533C>A (p.Phe511Leu)
c.1791C>A (p.Phe597Leu)
c.*188C>A (n.*188C>A)
c.1614C>A (p.Phe538Leu)
c.1746C>A (p.Phe582Leu)
n.330-3362G>T
6g.33440843C>GCA363693405SYNGAP1,SYNGAP1-AS1c.1533C>G (p.Phe511Leu)
c.1791C>G (p.Phe597Leu)
c.*188C>G (n.*188C>G)
c.1614C>G (p.Phe538Leu)
c.1746C>G (p.Phe582Leu)
n.330-3362G>C
6g.33440843C>TCA450108230SYNGAP1,SYNGAP1-AS1c.1533C>T (p.Phe511=)
c.1791C>T (p.Phe597=)
c.*188C>T (n.*188C>T)
c.1614C>T (p.Phe538=)
c.1746C>T (p.Phe582=)
n.330-3362G>A
6g.33440844delCA645369392SYNGAP1,SYNGAP1-AS1c.1534del (p.Leu512SerfsTer?)
c.1792del (p.Leu598SerfsTer?)
c.*189del (n.*189del)
c.1615del (p.Leu539SerfsTer?)
c.1747del (p.Leu583SerfsTer?)
n.330-3362del
 ClinVar dbSNP
6g.33440844C>ACA363693409SYNGAP1,SYNGAP1-AS1c.1534C>A (p.Leu512Ile)
c.1792C>A (p.Leu598Ile)
c.*189C>A (n.*189C>A)
c.1615C>A (p.Leu539Ile)
c.1747C>A (p.Leu583Ile)
n.330-3363G>T
6g.33440844C>GCA363693415SYNGAP1,SYNGAP1-AS1c.1534C>G (p.Leu512Val)
c.1792C>G (p.Leu598Val)
c.*189C>G (n.*189C>G)
c.1615C>G (p.Leu539Val)
c.1747C>G (p.Leu583Val)
n.330-3363G>C
 ClinVar
6g.33440844C>TCA363693413SYNGAP1,SYNGAP1-AS1c.1534C>T (p.Leu512Phe)
c.1792C>T (p.Leu598Phe)
c.*189C>T (n.*189C>T)
c.1615C>T (p.Leu539Phe)
c.1747C>T (p.Leu583Phe)
n.330-3363G>A
6g.33440845T>ACA363693417SYNGAP1,SYNGAP1-AS1c.1535T>A (p.Leu512His)
c.1793T>A (p.Leu598His)
c.*190T>A (n.*190T>A)
c.1616T>A (p.Leu539His)
c.1748T>A (p.Leu583His)
n.330-3364A>T
6g.33440845T>CCA363693419SYNGAP1,SYNGAP1-AS1c.1535T>C (p.Leu512Pro)
c.1793T>C (p.Leu598Pro)
c.*190T>C (n.*190T>C)
c.1616T>C (p.Leu539Pro)
c.1748T>C (p.Leu583Pro)
n.330-3364A>G
6g.33440845T>GCA363693421SYNGAP1,SYNGAP1-AS1c.1535T>G (p.Leu512Arg)
c.1793T>G (p.Leu598Arg)
c.*190T>G (n.*190T>G)
c.1616T>G (p.Leu539Arg)
c.1748T>G (p.Leu583Arg)
n.330-3364A>C
6g.33440846C>ACA450108232SYNGAP1,SYNGAP1-AS1c.1536C>A (p.Leu512=)
c.1794C>A (p.Leu598=)
c.*191C>A (n.*191C>A)
c.1617C>A (p.Leu539=)
c.1749C>A (p.Leu583=)
n.330-3365G>T
6g.33440846C>GCA450108233SYNGAP1,SYNGAP1-AS1c.1536C>G (p.Leu512=)
c.1794C>G (p.Leu598=)
c.*191C>G (n.*191C>G)
c.1617C>G (p.Leu539=)
c.1749C>G (p.Leu583=)
n.330-3365G>C
6g.33440846C>TCA450108234SYNGAP1,SYNGAP1-AS1c.1536C>T (p.Leu512=)
c.1794C>T (p.Leu598=)
c.*191C>T (n.*191C>T)
c.1617C>T (p.Leu539=)
c.1749C>T (p.Leu583=)
n.330-3365G>A
6g.33440847T>ACA363693425SYNGAP1,SYNGAP1-AS1c.1537T>A (p.Cys513Ser)
c.1795T>A (p.Cys599Ser)
c.*192T>A (n.*192T>A)
c.1618T>A (p.Cys540Ser)
c.1750T>A (p.Cys584Ser)
n.330-3366A>T
6g.33440847T>CCA363693428SYNGAP1,SYNGAP1-AS1c.1537T>C (p.Cys513Arg)
c.1795T>C (p.Cys599Arg)
c.*192T>C (n.*192T>C)
c.1618T>C (p.Cys540Arg)
c.1750T>C (p.Cys584Arg)
n.330-3366A>G
6g.33440847T>GCA363693436SYNGAP1,SYNGAP1-AS1c.1537T>G (p.Cys513Gly)
c.1795T>G (p.Cys599Gly)
c.*192T>G (n.*192T>G)
c.1618T>G (p.Cys540Gly)
c.1750T>G (p.Cys584Gly)
n.330-3366A>C
6g.33440848G>ACA363693440SYNGAP1,SYNGAP1-AS1c.1538G>A (p.Cys513Tyr)
c.1796G>A (p.Cys599Tyr)
c.*193G>A (n.*193G>A)
c.1619G>A (p.Cys540Tyr)
c.1751G>A (p.Cys584Tyr)
n.330-3367C>T
6g.33440848G>CCA363693443SYNGAP1,SYNGAP1-AS1c.1538G>C (p.Cys513Ser)
c.1796G>C (p.Cys599Ser)
c.*193G>C (n.*193G>C)
c.1619G>C (p.Cys540Ser)
c.1751G>C (p.Cys584Ser)
n.330-3367C>G
6g.33440848G>TCA363693447SYNGAP1,SYNGAP1-AS1c.1538G>T (p.Cys513Phe)
c.1796G>T (p.Cys599Phe)
c.*193G>T (n.*193G>T)
c.1619G>T (p.Cys540Phe)
c.1751G>T (p.Cys584Phe)
n.330-3367C>A
6g.33440849C>ACA363693451SYNGAP1,SYNGAP1-AS1c.1539C>A (p.Cys513Ter)
c.1797C>A (p.Cys599Ter)
c.*194C>A (n.*194C>A)
c.1620C>A (p.Cys540Ter)
c.1752C>A (p.Cys584Ter)
n.330-3368G>T
 dbSNP
6g.33440849C=CA1620013548SYNGAP1,SYNGAP1-AS1c.1539C= (p.Cys513=)
c.1797C= (p.Cys599=)
c.*194C= (n.*194C=)
c.1620C= (p.Cys540=)
c.1752C= (p.Cys584=)
n.330-3368G=
6g.33440849C>GCA363693453SYNGAP1,SYNGAP1-AS1c.1539C>G (p.Cys513Trp)
c.1797C>G (p.Cys599Trp)
c.*194C>G (n.*194C>G)
c.1620C>G (p.Cys540Trp)
c.1752C>G (p.Cys584Trp)
n.330-3368G>C
6g.33440849C>TCA450108235SYNGAP1,SYNGAP1-AS1c.1539C>T (p.Cys513=)
c.1797C>T (p.Cys599=)
c.*194C>T (n.*194C>T)
c.1620C>T (p.Cys540=)
c.1752C>T (p.Cys584=)
n.330-3368G>A
6g.33440850C>ACA363693463SYNGAP1,SYNGAP1-AS1c.1540C>A (p.Pro514Thr)
c.1798C>A (p.Pro600Thr)
c.*195C>A (n.*195C>A)
c.1621C>A (p.Pro541Thr)
c.1753C>A (p.Pro585Thr)
n.330-3369G>T
6g.33440850C>GCA363693466SYNGAP1,SYNGAP1-AS1c.1540C>G (p.Pro514Ala)
c.1798C>G (p.Pro600Ala)
c.*195C>G (n.*195C>G)
c.1621C>G (p.Pro541Ala)
c.1753C>G (p.Pro585Ala)
n.330-3369G>C
6g.33440850C>TCA363693460SYNGAP1,SYNGAP1-AS1c.1540C>T (p.Pro514Ser)
c.1798C>T (p.Pro600Ser)
c.*195C>T (n.*195C>T)
c.1621C>T (p.Pro541Ser)
c.1753C>T (p.Pro585Ser)
n.330-3369G>A
6g.33440851C>ACA363693470SYNGAP1,SYNGAP1-AS1c.1541C>A (p.Pro514Gln)
c.1799C>A (p.Pro600Gln)
c.*196C>A (n.*196C>A)
c.1622C>A (p.Pro541Gln)
c.1754C>A (p.Pro585Gln)
n.330-3370G>T
6g.33440851C>GCA363693474SYNGAP1,SYNGAP1-AS1c.1541C>G (p.Pro514Arg)
c.1799C>G (p.Pro600Arg)
c.*196C>G (n.*196C>G)
c.1622C>G (p.Pro541Arg)
c.1754C>G (p.Pro585Arg)
n.330-3370G>C
6g.33440851C>TCA363693483SYNGAP1,SYNGAP1-AS1c.1541C>T (p.Pro514Leu)
c.1799C>T (p.Pro600Leu)
c.*196C>T (n.*196C>T)
c.1622C>T (p.Pro541Leu)
c.1754C>T (p.Pro585Leu)
n.330-3370G>A
6g.33440852A>CCA450108236SYNGAP1,SYNGAP1-AS1c.1542A>C (p.Pro514=)
c.1800A>C (p.Pro600=)
c.*197A>C (n.*197A>C)
c.1623A>C (p.Pro541=)
c.1755A>C (p.Pro585=)
n.330-3371T>G
6g.33440852A>GCA450108237SYNGAP1,SYNGAP1-AS1c.1542A>G (p.Pro514=)
c.1800A>G (p.Pro600=)
c.*197A>G (n.*197A>G)
c.1623A>G (p.Pro541=)
c.1755A>G (p.Pro585=)
n.330-3371T>C
 gnomAD v4
6g.33440852A>TCA450108238SYNGAP1,SYNGAP1-AS1c.1542A>T (p.Pro514=)
c.1800A>T (p.Pro600=)
c.*197A>T (n.*197A>T)
c.1623A>T (p.Pro541=)
c.1755A>T (p.Pro585=)
n.330-3371T>A
6g.33440853G>ACA363693487SYNGAP1,SYNGAP1-AS1c.1543G>A (p.Ala515Thr)
c.1801G>A (p.Ala601Thr)
c.*198G>A (n.*198G>A)
c.1624G>A (p.Ala542Thr)
c.1756G>A (p.Ala586Thr)
n.330-3372C>T
6g.33440853G>CCA363693501SYNGAP1,SYNGAP1-AS1c.1543G>C (p.Ala515Pro)
c.1801G>C (p.Ala601Pro)
c.*198G>C (n.*198G>C)
c.1624G>C (p.Ala542Pro)
c.1756G>C (p.Ala586Pro)
n.330-3372C>G
6g.33440853G>TCA363693504SYNGAP1,SYNGAP1-AS1c.1543G>T (p.Ala515Ser)
c.1801G>T (p.Ala601Ser)
c.*198G>T (n.*198G>T)
c.1624G>T (p.Ala542Ser)
c.1756G>T (p.Ala586Ser)
n.330-3372C>A
6g.33440854C>ACA363693508SYNGAP1,SYNGAP1-AS1c.1544C>A (p.Ala515Glu)
c.1802C>A (p.Ala601Glu)
c.*199C>A (n.*199C>A)
c.1625C>A (p.Ala542Glu)
c.1757C>A (p.Ala586Glu)
n.330-3373G>T
 ClinVar dbSNP
6g.33440854C=CA1620013549SYNGAP1,SYNGAP1-AS1c.1544C= (p.Ala515=)
c.1802C= (p.Ala601=)
c.*199C= (n.*199C=)
c.1625C= (p.Ala542=)
c.1757C= (p.Ala586=)
n.330-3373G=
6g.33440854C>GCA363693518SYNGAP1,SYNGAP1-AS1c.1544C>G (p.Ala515Gly)
c.1802C>G (p.Ala601Gly)
c.*199C>G (n.*199C>G)
c.1625C>G (p.Ala542Gly)
c.1757C>G (p.Ala586Gly)
n.330-3373G>C
 gnomAD v4
6g.33440854C>TCA363693521SYNGAP1,SYNGAP1-AS1c.1544C>T (p.Ala515Val)
c.1802C>T (p.Ala601Val)
c.*199C>T (n.*199C>T)
c.1625C>T (p.Ala542Val)
c.1757C>T (p.Ala586Val)
n.330-3373G>A
 ClinVar dbSNP
6g.33440855G>ACA3758714SYNGAP1,SYNGAP1-AS1c.1545G>A (p.Ala515=)
c.1803G>A (p.Ala601=)
c.*200G>A (n.*200G>A)
c.1626G>A (p.Ala542=)
c.1758G>A (p.Ala586=)
n.330-3374C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33440855G>CCA450108239SYNGAP1,SYNGAP1-AS1c.1545G>C (p.Ala515=)
c.1803G>C (p.Ala601=)
c.*200G>C (n.*200G>C)
c.1626G>C (p.Ala542=)
c.1758G>C (p.Ala586=)
n.330-3374C>G
6g.33440855G=CA1620013550SYNGAP1,SYNGAP1-AS1c.1545G= (p.Ala515=)
c.1803G= (p.Ala601=)
c.*200G= (n.*200G=)
c.1626G= (p.Ala542=)
c.1758G= (p.Ala586=)
n.330-3374C=
6g.33440855G>TCA450108240SYNGAP1,SYNGAP1-AS1c.1545G>T (p.Ala515=)
c.1803G>T (p.Ala601=)
c.*200G>T (n.*200G>T)
c.1626G>T (p.Ala542=)
c.1758G>T (p.Ala586=)
n.330-3374C>A
 ClinVar
6g.33440856A>CCA363693528SYNGAP1,SYNGAP1-AS1c.1546A>C (p.Ile516Leu)
c.1804A>C (p.Ile602Leu)
c.*201A>C (n.*201A>C)
c.1627A>C (p.Ile543Leu)
c.1759A>C (p.Ile587Leu)
n.330-3375T>G
6g.33440856A>GCA363693530SYNGAP1,SYNGAP1-AS1c.1546A>G (p.Ile516Val)
c.1804A>G (p.Ile602Val)
c.*201A>G (n.*201A>G)
c.1627A>G (p.Ile543Val)
c.1759A>G (p.Ile587Val)
n.330-3375T>C
6g.33440856A>TCA363693532SYNGAP1,SYNGAP1-AS1c.1546A>T (p.Ile516Phe)
c.1804A>T (p.Ile602Phe)
c.*201A>T (n.*201A>T)
c.1627A>T (p.Ile543Phe)
c.1759A>T (p.Ile587Phe)
n.330-3375T>A
6g.33440857T>ACA363693535SYNGAP1,SYNGAP1-AS1c.1547T>A (p.Ile516Asn)
c.1805T>A (p.Ile602Asn)
c.*202T>A (n.*202T>A)
c.1628T>A (p.Ile543Asn)
c.1760T>A (p.Ile587Asn)
n.330-3376A>T
6g.33440857T>CCA363693534SYNGAP1,SYNGAP1-AS1c.1547T>C (p.Ile516Thr)
c.1805T>C (p.Ile602Thr)
c.*202T>C (n.*202T>C)
c.1628T>C (p.Ile543Thr)
c.1760T>C (p.Ile587Thr)
n.330-3376A>G
6g.33440857T>GCA363693533SYNGAP1,SYNGAP1-AS1c.1547T>G (p.Ile516Ser)
c.1805T>G (p.Ile602Ser)
c.*202T>G (n.*202T>G)
c.1628T>G (p.Ile543Ser)
c.1760T>G (p.Ile587Ser)
n.330-3376A>C
6g.33440858T>ACA450108241SYNGAP1,SYNGAP1-AS1c.1548T>A (p.Ile516=)
c.1806T>A (p.Ile602=)
c.*203T>A (n.*203T>A)
c.1629T>A (p.Ile543=)
c.1761T>A (p.Ile587=)
n.330-3377A>T
6g.33440858T>CCA450108242SYNGAP1,SYNGAP1-AS1c.1548T>C (p.Ile516=)
c.1806T>C (p.Ile602=)
c.*203T>C (n.*203T>C)
c.1629T>C (p.Ile543=)
c.1761T>C (p.Ile587=)
n.330-3377A>G
6g.33440858T>GCA363693536SYNGAP1,SYNGAP1-AS1c.1548T>G (p.Ile516Met)
c.1806T>G (p.Ile602Met)
c.*203T>G (n.*203T>G)
c.1629T>G (p.Ile543Met)
c.1761T>G (p.Ile587Met)
n.330-3377A>C
6g.33440859A>CCA363693538SYNGAP1,SYNGAP1-AS1c.1549A>C (p.Met517Leu)
c.1807A>C (p.Met603Leu)
c.*204A>C (n.*204A>C)
c.1630A>C (p.Met544Leu)
c.1762A>C (p.Met588Leu)
n.330-3378T>G
6g.33440859A>GCA363693539SYNGAP1,SYNGAP1-AS1c.1549A>G (p.Met517Val)
c.1807A>G (p.Met603Val)
c.*204A>G (n.*204A>G)
c.1630A>G (p.Met544Val)
c.1762A>G (p.Met588Val)
n.330-3378T>C
6g.33440859A>TCA363693540SYNGAP1,SYNGAP1-AS1c.1549A>T (p.Met517Leu)
c.1807A>T (p.Met603Leu)
c.*204A>T (n.*204A>T)
c.1630A>T (p.Met544Leu)
c.1762A>T (p.Met588Leu)
n.330-3378T>A
6g.33440860T>ACA363693543SYNGAP1,SYNGAP1-AS1c.1550T>A (p.Met517Lys)
c.1808T>A (p.Met603Lys)
c.*205T>A (n.*205T>A)
c.1631T>A (p.Met544Lys)
c.1763T>A (p.Met588Lys)
n.330-3379A>T
6g.33440860T>CCA363693544SYNGAP1,SYNGAP1-AS1c.1550T>C (p.Met517Thr)
c.1808T>C (p.Met603Thr)
c.*205T>C (n.*205T>C)
c.1631T>C (p.Met544Thr)
c.1763T>C (p.Met588Thr)
n.330-3379A>G
6g.33440860T>GCA363693546SYNGAP1,SYNGAP1-AS1c.1550T>G (p.Met517Arg)
c.1808T>G (p.Met603Arg)
c.*205T>G (n.*205T>G)
c.1631T>G (p.Met544Arg)
c.1763T>G (p.Met588Arg)
n.330-3379A>C

Number of alleles fetched